Fig. 1.1 Main causes of abdominal swelling according to site.
Fever of unknown origin (FUO or PUO)
Petechiae and thrombocytopenia
Patients may describe generalized abdominal swelling or localized fullness in a specific area of the abdomen.
Fluid in the peritoneal cavity. Look for shifting dullness and fluid thrill on percussion, stigmata of chronic liver disease, lymphadenopathy, and oedema, and assess the jugular venous pressure (JVP).
•Cirrhosis/portal hypertension.
•Urea and electrolytes (U&Es).
•Ascitic tap for cytology, and microscopy, culture, and sensitivity (M,C&S).
•Serum-ascites albumin gradient.
•Ultrasound scan (USS) of the abdomen.
(See Fig. 1.1.)
Gaseous distension. Need to exclude bowel obstruction. Assess for colicky abdominal pain, bowel habit, flatus, and vomiting. Look for resonant distension on percussion, altered or absent bowel sounds, and focal tenderness with rebound and guarding. Always check for herniae and perform a per rectum (PR) examination in suspected obstruction.
•Intraluminal: faecal impaction, gallstone ileus.
•Luminal: inflammatory stricture (e.g. Crohn’s), tumour, abscess.
•Extraluminal: herniae, adhesions, pelvic mass, lymphadenopathy, volvulus, intussusception.
•Paralytic ileus: drug-induced, electrolyte disturbances.
•Age-related causes of obstruction.
•Neonatal: congenital atresia, imperforate anus, volvulus, Hirschsprung’s disease, meconium ileus.
•Infants: intussusception, Hirschsprung’s, herniae, Meckel’s diverticulum.
•Young/middle-aged adults: herniae, adhesions, Crohn’s.
•Elderly: herniae, carcinoma, diverticulitis, faecal impaction.
•Abdominal X-ray (AXR) (erect and supine).
•Consider barium enema, barium follow-through, sigmoidoscopy, surgical intervention for complete acute obstruction.
•Consider USS abdomen and pelvis.
•Computed tomography (CT) scanning.
OHCM 10e, p. 62, p. 604.
Abdominal pain may be acute or chronic. Severe acute pain may indicate a surgical emergency, including perforation, peritonitis, or obstruction. Assess nature and radiation of pain, clinical status of the patient, including fever, tachycardia, and hypotension.
Peptic ulcer disease, gastritis or duodenal erosions, cholecystitis, pancreatitis.
Pancreatitis, mesenteric artery ischaemia (older patient with vascular disease).
Biliary colic, cholecystitis, hepatitis, peptic ulcer.
Splenic, peptic ulcer.
Renal colic (colicky radiating loin → groin), pyelonephritis, renal pathology.
Constipation, diverticular disease, irritable bowel syndrome (IBS), pelvic referred pain, inflammatory bowel disease (IBD).
Appendicitis, pelvic referred pain, IBD (e.g. Crohn’s of terminal ileum).
Urinary tract infection (UTI), cystitis, salpingitis.
Gastroenteritis, irritable bowel, constipation, generalized peritonitis.
•Metabolic causes, e.g. diabetic ketoacidosis (DKA), hypercalcaemia, Addison’s disease, porphyria, lead poisoning.
•Atypical referred pain, e.g. myocardial infarction (MI), pneumonia.
•U&E, e.g. deranged electrolytes following vomiting, diarrhoea, or bowel obstruction.
•Serum amylase (↑ in pancreatitis and bowel obstruction).
•Urinalysis and midstream urine (MSU), e.g. haematuria, proteinuria, glucose.
•LFTs (consider obstructive vs hepatitic picture).
•Plain AXR (erect and supine to assess for perforation and bowel obstruction).
•Kidney, ureter, bladder X-ray (KUB) for renal tract calculi.
•USS abdomen, particularly for biliary tract, gall bladder, and renal tract.
•IVU to assess for renal tract calculi/pathology.
OHCM 10e, p. 30, p. 57, p. 609.
This is usually reported by a relative or friend, rather than by the patient. Often the patient will have little or no insight into the disease and taking a history can be difficult. In addition to a full general and neurological physical examination, a mental state examination is required.
Find out if this is the first episode of altered behaviour or if the episodes are recurrent. Is there a gradual change in behaviour (and personality) over time?
•Acute intracranial event, e.g. haemorrhage.
•Metabolic disturbance, e.g. uraemia, hypercalcaemia (common).
•Intracerebral tumour (including meningioma).
•Drugs—especially interactions in the elderly.
•Alcohol (and withdrawal syndrome).
•Hypoglycaemia (iatrogenic in diabetic patients receiving insulin treatment or oral insulin secretagogues, or insulinoma and other causes).
•Alzheimer’s (common), Pick’s (rare).
•Vascular, e.g. multi-infarct.
•Vitamin B12 deficiency (severe).
•Normal pressure hydrocephalus.
Note: ‘frontal lobe syndrome’ from space-occupying lesion (SOL), e.g. meningioma. Presents with disinhibition, impaired social functioning, primitive reflexes, e.g. grasp reflex.
•Paroxysmal atrial tachycardia (fairly common).
•Alcohol withdrawal (usually history of excessive alcohol intake).
•Bipolar disorder or pseudo-dementia in:
•Systemic lupus erythematosus (SLE).
•Thyrotoxicosis (‘apathetic’ thyrotoxicosis in the elderly).
•Temporary disturbance of content of consciousness.
•Glucose (in non-diabetics, take fasting venous plasma in a fluoride oxalate tube with simultaneous serum or plasma for insulin concentration, e.g. suspected insulinoma).
•Thyroid function tests (TFTs).
•Erythrocyte sedimentation rate (ESR).
•Urinalysis (protein, nitrites, glucose).
•Arterial blood gases (ABGs) ± carboxyhaemoglobin (COHb).
•Human immunodeficiency virus (HIV) test.
•Urine drug screen ( Chapter 11).
•Blood ethanol level (may be low in withdrawal state).
A change in bowel habit in an adult should always alert you to the possibility of bowel cancer. Ask about associated features—PR bleeding, tenesmus, weight loss, mucus, abdominal pain, or bloating.
Has the patient started any new medications, including ‘over the counter’? Look for signs of systemic disease.
•Constipation with overflow diarrhoea.
•All of the above may present with alternating diarrhoea and constipation.
•Sigmoidoscopy (rigid/flexible).
Diarrhoea (pp. 32–33), Constipation (pp. 29–30), Incontinence: faecal (p. 60).
Reduced haemoglobin (Hb), no specific cause implied (and not a diagnosis in itself, so don’t be complacent): ♂ <13.5g/dL, ♀ <11.5g/dL. Often associated with non-specific symptoms such as fatigue, poor concentration, shortness of breath, and dizziness. Older patients may experience palpitations and exacerbation of angina, congestive cardiac failure (CCF), or claudication.
Pallor of conjunctivae and skin creases, nail pallor and koilonychia (spoon-shaped nails, very rare finding in severe chronic iron deficiency), angular cheilitis, and glossitis. Most of these signs are unreliable and it is difficult to gauge anaemia from skin signs alone.
(See Table 1.1.)
Two common approaches to assess anaemia are:
•↑ Red blood cell (RBC) loss/breakdown, e.g. haemolysis (congenital or acquired) or bleeding.
•↓ RBC production, e.g. vitamin/mineral deficiency, marrow suppression/infiltration, myelodysplasia, Hb disorders (e.g. thalassaemia), chronic disease, renal failure.
Table 1.1 Some causes of anaemia based on the MCV
| Microcytic/hypochromic | |
| Macrocytic | |
| Normocytic, normochromic |
Anaemia of chronic disease, e.g. |
MCHC, mean corpuscular haemoglobin concentration; MCV, mean cell volume.
Assessment of RBC indices helps direct investigation as above.
•Check iron stores (ferritin or soluble transferrin receptor assay). Note: ferritin is ↑ in acute inflammation and may be misleading. Iron/total iron binding capacity (TIBC) no longer used for assessment of iron deficiency ( Assessment of iron status, pp. 244–247).
•Consider thalassaemia screening if not iron-deficient (i.e. ↓ MCV, ↔ ferritin).
•If iron-deficient, assess dietary history (vegetarians) and look for risk factors for blood loss and ↑ demands.
•Premenopausal women: assess menstrual losses.
•Pregnancy/infants/adolescence: consider physiological (↑ requirements).
•All others: look for source of blood loss. The gastrointestinal (GI) tract is the commonest source. Consider oesophagogastroduodenoscopy (OGD) and/or colonoscopy if clinically indicated by symptoms and barium studies.
•Serum B12 and red cell folate levels.
•If folate-deficient: assess dietary history and physiological requirements.
•If B12-deficient: rarely dietary cause alone, usually an associated pathology. Pernicious anaemia (PA) is the commonest cause—check parietal cell antibodies (90% of patients with PA are +ve, but seen in other causes of gastric atrophy, especially in older individuals) and/or intrinsic factor antibodies (+ve in only 50% with PA, but specific). Consider ileal disease and malabsorption.
•Consider myeloma screen in older adults (immunoglobulins (Igs), protein electrophoresis, urine Bence–Jones protein (BJP)). Skeletal survey of value if paraprotein or BJP.
•Autoimmune screen to exclude connective tissue disease.
•FBC, mean cell volume (MCV) (↑ due to reticulocytosis—these are larger than RBCs).
•Blood film (spherocytes, polychromasia, bite cells, and red cell fragmentation).
•Serum bilirubin and serum lactate dehydrogenase (LDH).
•Haptoglobins (absent in haemolysis).
•Direct antibody test (DAT) (old term is direct Coombs’ test).
•Congenital haemolytic anaemias: membrane defects, enzyme deficiencies (e.g. glucose-6-phosphate dehydrogenase (G6PD), pyruvate kinase).
•Disseminated intravascular coagulation (DIC)/microangiopathic haemolysis—DIC screen.
Defined as a systemic reaction (local oral angio-oedema is not anaphylaxis), with any or all of the following:
•Stridor (laryngeal obstruction).
•Generalized urticaria and/or angio-oedema.
•Hypotension ± loss of consciousness.
•Abdominal pain/cramps, vomiting, and diarrhoea.
Note: not all patients have urticaria or rash—only 50% will do so.
Differentiate IgE-mediated reactions (anaphylaxis) from non-IgE-mediated reactions (anaphylactoid)—due to direct mast cell degranulation).
Angio-oedema is deep tissue swelling which is non-itchy. May be premonitory tingling. May occur with or without urticaria. Caused by bradykinin, not histamine.
•As for urticaria; also hereditary angioedema (rare).
•Also think of drugs—these are the commonest cause:
•Angiotensin-converting enzyme (ACE) inhibitors (ACEIs) (elevated bradykinin levels due to inhibition of breakdown).
•Angiotensin II (AT-II) receptor antagonists.
•Non-steroidal anti-inflammatory drugs (NSAIDs).
May also be seen in patients with autoimmune disease, such as lupus and rheumatoid arthritis (RhA) (antibodies against C1q), and in older patients in association with paraproteins (myeloma, lymphoma).
Angio-oedema with urticaria is not due to hereditary angio-oedema.
•Check drug history first! If suspect drugs, then stop drugs and wait! If no drugs, then investigate.
•Investigate as for urticaria.
•If C4 low, check C1 esterase inhibitor (immunochemical and functional).
•Serum Igs and electrophoresis.
This describes a loss of appetite for food and is associated with a wide range of disorders. In fact, anorexia is a fairly common consequence of underlying disease and represents general undernourishment. Anorexia per se is associated with ↑ morbidity, especially when present in patients undergoing surgery; post-operative infection is commoner, as is prolongation of the hospital stay.
The extent to which it will be investigated depends on the general status of the patient and the presence and duration of any symptoms or signs. Clinical judgement will help!
•Cancers: any, including carcinoma of the stomach or oesophagus, metastatic, leukaemia, or lymphoma.
•Drugs, including chemotherapy.
•Full history and examination.
•FBC—looking for anaemia or non-specific changes seen in underlying disease.
•ESR—may be elevated in inflammatory disorders.
•CXR (e.g. lung cancer, tuberculosis (TB), etc.).
•Cultures of blood, sputum, urine, stool if pyrexial and/or localizing symptoms or signs.
Anuria denotes absent urine production. Oliguria (<400mL urine/24h) is commoner than anuria. A catheter must be passed to confirm an empty bladder.
•Urinary retention—prostatic hypertrophy; pelvic mass; drugs, e.g. tricyclic antidepressants; spinal cord lesions.
•Blocked indwelling urinary catheter.
•Obstruction of the ureters—tumour, stone, sloughed papillae (bilateral).
•Intrinsic renal failure—acute glomerulonephritis, acute interstitial nephritis, acute tubular necrosis (ATN), rhabdomyolysis.
•Pre-renal failure—dehydration, septic shock, cardiogenic shock.
An urgent USS of the renal tract must be performed and any physical obstruction relieved as quickly as possible, either directly (urethral catheter) or indirectly (nephrostomy).
►► Renal function and serum electrolytes must be measured without delay.
•Prostate-specific antigen (PSA) (prostatic carcinoma).
•Serum Ca2+ and phosphate (PO43−).
•Central venous pressure (CVP) measurement via central line (to guide intravenous (IV) fluids).
•Urine microscopy (for casts).
•Urine osmolality, sodium, creatinine, urea concentrations.
•IVU ( Radiology of the urinary tract, pp. 808–811).
•Urinary stone analysis, if available.
•Renal biopsy (if intrinsic renal disease suspected, normal-sized kidneys).
OHCM 10e, p. 81, p. 293.
Ataxia is an impaired ability to coordinate limb movements. There must be no motor paresis (e.g. monoparesis) or involuntary movements (e.g. the characteristic cogwheel tremor in Parkinson’s disease (PD) is not ataxia).
Note: many forms of ataxia are hereditary (but are uncommon).
•Olivopontocerebellar atrophy.
•Hereditary spastic paraplegia.
•Genetic analysis (discuss with the regional genetics laboratory—counselling may be required).
•Loss of proprioception—peripheral neuropathy, dorsal column disease.
•Venous plasma glucose (diabetic neuropathy).
•Serum vitamin B12 (subacute combined degeneration of the cord—rare, but serious).
•Demyelinating diseases, e.g. MS.
•Cerebellar infarct or haemorrhage.
•Alcoholic cerebellar degeneration.
•Cerebellar tumour—1° in children, metastases in adults. Note: von Hippel–Lindau (VHL) disease ( OHCM 10e, Chapter 19).
•Drugs (supratherapeutic blood levels):
•Paget’s disease of the skull.
•Wilson’s disease (hepatolenticular degeneration).
•Creutzfeldt–Jakob disease (CJD) and other chronic infections.
•Normal pressure hydrocephalus.
•Chorea: Huntington’s, Sydenham’s, thyrotoxicosis (very rare).
•Hemiballismus: characteristic movement disorder, rare.
•Tardive dyskinesia: chronic phenothiazine therapy.
•Magnetic resonance imaging (MRI) brain (if demyelination suspected).
•CXR (cerebellar metastases from bronchogenic carcinoma; paraneoplastic syndrome).
•Triple evoked potentials (demyelination).
•Lumbar puncture (LP) ( Lumbar puncture, pp. 584–589).
•Serum drug concentrations, especially anticonvulsants.
•Erythrocyte transketolase (↓ in thiamine deficiency, e.g. alcoholism).
•Isotope bone scan (Paget’s, metastases).
•Serum alkaline phosphatase (ALP)—bone isoenzyme (Paget’s, metastases).
•Urine hydroxyproline (Paget’s disease—reflects bone turnover).
•Caeruloplasmin (Wilson’s disease).
•Serum and urine copper (Wilson’s disease).
Consider whether the movement disorder is psychogenic (uncommon), rather than due to neuropathology. Uncommon and should not be confidently assumed.
OHCM 10e, p. 467.
Bradycardia is defined as a heart rate of <60 beats per minute. It is a normal physiological response to fitness training but should always be considered a marker of potential cardiac disease until proved otherwise.
A comprehensive history and thorough examination are important. A transient bradycardia can cause disabling symptoms of dizziness or blackouts in the elderly, whilst persistent bradycardia often heralds systemic disease, e.g.:
•Iatrogenic: cardiac drugs, e.g. β-blockers (including eye drops for glaucoma), amiodarone, and calcium channel blockers (e.g. diltiazem and verapamil), cause sinus bradycardia; digoxin (atrioventricular (AV) block). The likelihood of extreme bradycardia or heart block is ↑ with combination therapy.
•Cardiac causes: acute MI (often transient in inferior MI); coronary artery disease; sick sinus syndrome; myocardial disease (amyloid, Chagas’ disease, sarcoid, myocarditis).
•↑ vagal tone associated with nausea and vomiting.
•Diminished sympathetic activity.
•Physiological: bradycardia is normal in sleep and in athletes.
•Hypothyroidism: associated with characteristic symptoms and signs.
•↑ intracranial pressure (ICP), e.g. cerebral tumour.
•Hypothermia, e.g. myxoedema coma.
•Metabolic: severe hyperkalaemia, anorexia.
•Infective: inappropriate bradycardia seen in diphtheria, typhoid.
•12-lead ECG to identify the underlying rhythm.
•24h ambulatory ECG monitoring, patient-activated event recorder, or implantable loop recorder, depending on the frequency of symptoms.
•Low reading thermometer (hypothermia—check for J waves on ECG).
•CT brain scan (? intracranial pathology).
OHCM 10e, p. 124, p. 808.
Breathlessness (dyspnoea) is the subjective awareness of difficulty in breathing. Almost universal during exercise, it is a common presenting symptom in a broad spectrum of diseases. A comprehensive history and a thorough examination are therefore essential. Speed of symptom onset, the patient’s age and occupation, and local disease prevalence are particularly helpful in devising a differential diagnosis and a guide to investigations.
•Acute pulmonary disease: pneumonia, acute asthma, pulmonary embolus (PE), inhaled foreign body, pneumothorax, acute respiratory distress.
•Chronic pulmonary disease: emphysema, chronic bronchitis, ruptured bulla; interstitial disease (sarcoid, fibrosing alveolitis, extrinsic alveolitis, pneumoconiosis).
•Carcinoma: bronchogenic carcinoma, lymphangitis carcinomatosis, 2° carcinoma.
•Acute cardiac disease: acute MI (and associated complications of pulmonary oedema, ventricular septal defect (VSD), mitral valve chordal rupture and arrhythmias).
•Chronic cardiac disease: left ventricular dysfunction, valvular heart disease (mitral or aortic stenosis and regurgitation), ischaemic heart disease (IHD), pulmonary hypertension, pleural effusion, arrhythmias (especially atrial fibrillation (AF)).
•Metabolic: poisoning from salicylates, methanol, and ethylene glycol, DKA, lactic acidosis, hepatic and renal failure.
•Neuromuscular: intercostal muscle/diaphragmatic weakness due to Guillain–Barré syndrome (GBS), muscular dystrophy.
•Anxiety and hyperventilation.
•Morphological: kyphoscoliosis, obesity.
•Laryngeal obstruction: extrinsic compression (retrosternal goitre), angioedema (often acute drug allergy), laryngeal spasm (hypocalcaemia).
•Peak expiratory flow rate (PEFR).
•Transthoracic echocardiography (TTE).
•24h ambulatory ECG monitoring.
•Ventilation/perfusion (V/Q) scan/computed tomography pulmonary angiography (CTPA).
OHCM 10e, p. 782.
Easy bruising is a common complaint and warrants careful assessment of onset and nature. Recent onset of spontaneous and unusual bruising or bleeding may suggest a serious acquired defect. A lifelong history of bruising and bleeding (e.g. post-tonsillectomy, dental extraction, or surgery) may imply a congenital defect. Family history may be informative.
Examine: skin, mouth, dependent areas, and fundi for mucocutaneous bleeding and purpura (non-blanching haemorrhages into the skin).
•Thrombocytopenia or platelet dysfunction (e.g. aspirin).
•Marrow failure, infiltration, immune thrombocytopenia (ITP), DIC, hypersplenism, drugs, or alcohol.
•Congenital, e.g. Osler–Weber–Rendu syndrome.
•Acquired, e.g. senile purpura, vasculitis (Henoch–Schönlein purpura, infection), diabetes, corticosteroid therapy, scurvy, connective tissue diseases.
•Congenital—mucocutaneous bruising is suggestive of a platelet-mediated defect (e.g. von Willebrand’s disease, Glanzmann’s thrombasthenia), rather than a clotting factor deficiency (e.g. haemophilia A and B).
•Acquired, e.g. DIC, vitamin K deficiency.
•Myeloma, Waldenström’s macroglobulinaemia (low-grade lymphoma associated with ↑ IgM and ↑ plasma viscosity), ↑↑ white blood cells (WBC) in leukaemia.
•Coagulation—international normalized ratio (INR) and activated partial thromboplastin time ratio (APTR).
•Bleeding time, measures platelet and vascular phase.
•DIC screen, including fibrinogen, thrombin time, D-dimers or fibrin degradation products (FDPs).
•Platelet aggregation studies to assess platelet function.
OHCM 10e, p. 346.
Assess whether swelling is bilateral or unilateral, precipitating factors, and duration of onset. Careful examination of the affected leg should be extended to a full examination, particularly of the abdominal and cardiovascular systems.
•Superficial thrombophlebitis.
•Post-phlebitic limb (post-DVT).
•Ruptured Baker’s cyst (synovial effusion in the popliteal fossa associated with rheumatoid disease).
•Cellulitis (associated fever, sepsis, tachycardia).
•CCF (bilateral limb oedema, ↑ JVP, and signs of left ventricular failure (LVF)).
•Pregnancy: ↑ dependent oedema, but note also ↑ thrombotic risk, and DVT should be excluded.
Usually affects the lower limb and can extend proximally into the iliofemoral veins and inferior vena cava (IVC), with a higher risk of associated PE and a higher incidence of post-phlebitic limb. Occasionally seen affecting the upper limb, but this is atypical.
•Recent major surgery, especially orthopaedic lower limb, abdominal, and pelvic.
•High-dose oestrogen oral contraceptive pill (OCP).
•Family history of venous thromboembolism (VTE).
USS Doppler studies, impedance plethysmography, venography, exclude PE. If any associated symptoms, arrange V/Q scan, multislice CT, and pulmonary angiography. Thrombophilia screening for younger patients (age <55), atypical site and extensive clots, spontaneous onset, and family history.
Acute chest pain is a common symptom. A detailed history and a full physical examination should be performed in order to define the most likely cause and necessary investigation pathway.
Be sure to ask the following questions about the pain:
•Precipitating and relieving features.
•Response to pain relief, antacids, or nitrates.
Most types of chest pain fall within one of the categories in Table 1.2.
| Pain source | Description of pain |
| Myocardial ischaemia | Retrosternal, heavy ache, can radiate → jaw and arms, precipitated by exertion, and relieved by rest or nitrates |
| Aortic dissection | Severe central tearing pain, radiates to back |
| Gastro-oesophageal disease | Burning central pain; can radiate to shoulders, throat, or abdomen; exacerbated by meals, eased with antacids/milk |
| Pleuritic pain | Focal sharp pain, exacerbated by inspiration |
| Pericardial pain | Sharp pain, radiates to left shoulder tip, worse on lying flat and during inspiration, eased by sitting forwards |
| Musculoskeletal pain | Sharp focal pain exacerbated by movement and palpation |
(See Table 1.3.)
Table 1.3 Investigations for suspected diagnoses
CRP, C-reactive protein; G&S, group and save; TOE, transoesophageal echocardiography; TTE, transthoracic echocardiography.
ACC/AHA 2002 guideline update for the management of patients with chronic stable angina.
http://www.onlinejacc.org/content/41/1/159?_ga=2.15239422.956431479.1499776108-163922176.1499776108.
OHCM 10e, p. 36, p. 48, p. 94, p. 784.
Soft tissue hypertrophy under the nail bed distorts finger and toenail growth.
•↑ lateral and longitudinal nail curvature.
•The skin at the base of the nail becomes spongy.
•The angle between the nail and skin is obliterated.
•In extreme cases, the terminal phalanx becomes bulbous like a drumstick.
Clubbing can be an important visual indicator of major disease, although it can also be congenital. Rarely, clubbing may accompany swollen wrists and ankles as part of a proliferative periostitis seen in hypertrophic pulmonary osteoarthropathy (HPOA). This is associated with squamous carcinoma of the lung.
•Lung disease: cystic fibrosis, bronchiectasis, empyema, lung abscess, asbestosis, mesothelioma, pulmonary sarcoid.
•Carcinoma: bronchogenic (especially squamous cell), mediastinal, pleural, oesophageal, gastric, colonic, thoracic lymphoma, familial polyposis coli.
•Infection: infective endocarditis, colonic amoebiasis.
•Vascular disease: cyanotic congenital heart disease, atrial myxoma, arteriovenous malformation (AVM).
•Liver disease: primary biliary cirrhosis (PBC), chronic active hepatitis.
•Ulcerative colitis and Crohn’s disease, malabsorption.
•Rare causes: thyrotoxicosis, polycythaemia, SLE.
•Blood cultures (at least three sets if infective endocarditis suspected).
•Faecal occult blood (FOB) (three samples).
•Echocardiography (TTE or transoesophageal echocardiography (TOE)).
•Bronchoscopy, biopsy, washings.
OHCM 10e, p. 40, p. 77.
The Glasgow Coma Scale (GCS) is used to assess the level of consciousness (see Table 1.4). The minimum score is 3; the maximum 15.
Assess the level of consciousness and determine whether this is stable, fluctuating, improving, or deteriorating on serial assessments.
•Intracranial haemorrhage (subarachnoid haemorrhage (SAH), subdural haemorrhage (SDH), extradural haemorrhage (EDH), intracerebral bleed).
•Pontine haemorrhage (pinpoint pupils).
•Cerebral venous sinus thrombosis.
•Cerebral tumour (associated local cerebral oedema may respond to dexamethasone).
•Cerebral infection—encephalitis, meningitis, cerebral malaria, brain abscess.
•Subclinical status epilepticus. (Note: this is an EEG diagnosis.)
•Cerebral vasculitis, e.g. SLE.
•CJD (including variant CJD (vCJD)).
| Eye opening | ||
| Motor response | ||
| Vocal response |
•Drugs (usually in deliberate overdose; Chapter 11).
•Alcohol excess. (Note: remember hypoglycaemia as a cause of coma in alcoholics, as well as extradural haematoma.)
•Hypoglycaemia (iatrogenic, overdose of insulin or sulfonylureas, insulinoma, insulin-like growth factor (IGF)-2-associated hypoglycaemia in certain tumours).
•DKA (coma in ~10% of cases—adverse prognostic sign).
•Hyperosmolar non-ketotic coma (HONK) (may present as severe dehydration ± coma).
•Late stages of hepatic encephalopathy.
•Severe hyponatraemia (relatively common—especially inappropriate antidiuretic hormone (ADH) syndrome).
•Hypothyroidism (myxoedema coma—rare).
•Inborn error of metabolism, e.g. porphyria, urea cycle disorders.
•Type 2 respiratory failure (carbon dioxide (CO2) narcosis).
•Hyperpyrexia (neuroleptic malignant syndrome (NMS), after anaesthesia).
•Severe nutritional deficiency—thiamine, pyridoxine, vitamin B12.
•Venous plasma glucose (exclude hypoglycaemia with a fingerstick + reflectance meter; confirm with a venous plasma fluoride–oxalate sample).
•Clotting screen ( p. 288, p. 289, p. 290).
•CXR (bronchogenic carcinoma with cerebral metastases).
•Erythrocyte transketolase (↓ in thiamine deficiency).
•Serum ammonia (NH3) (↑ in urea cycle disorders).
Always assess Airway, Breathing, Circulation before assessment of the cause of ↓ consciousness. Consider psychogenic unresponsiveness.
OHCM 10e, p. 220, pp. 786–9, p. 834, p. 836.
A reliable witness, family member, or carer may be vital in assessing a patient with confusion, and care must be taken to discriminate between acute and chronic symptoms. Acute confusional states carry a very broad differential diagnosis and require careful initial evaluation (see Table 1.5). Any systemic illness can precipitate a confusional state.
| Hypoxaemia | Acute infection, asthma, COPD, etc. |
| Head injury | Cerebral trauma |
| Vascular | CVA, TIA, intracerebral, SDH |
| Infection | |
| Endocrine/metabolic | DKA, hypoglycaemia, thyrotoxicosis or myxoedema, uraemia, hypercalcaemia, hyponatraemia |
| Alcohol and drug abuse | |
| Iatrogenic | Full and recent medication history (especially opiates, analgesia, and sedatives) |
| Post-ictal state | |
| Cerebral tumour | |
| Psychiatric | |
| Wernicke’s encephalopathy |
•FBC, U&E, LFTs, serum Ca2+, BM stix, and blood glucose.
•MSU, blood cultures, sputum culture.
•Drug/toxicology screen—blood and urine.
►► Always look for a MedicAlert™ bracelet, necklace, or card.
OHCM 10e, p. 576.
Patients may use the term constipation to mean infrequent, hard, small volume, or difficult to pass faeces. Patients vary enormously in their threshold to seek medical advice about bowel habit.
Ask about:
•Anorectal disease—fissure or haemorrhoid.
•Drugs, especially analgesics.
•Hypercalcaemia, hyperparathyroidism, hypokalaemia.
•Electrophysiological studies.
►► Elderly patients are more prone to constipation.
OHCM 10e, pp. 260–1, p. 534.
Cyanosis is a blue/purple dusky discoloration of tissue caused by a rise in blood deoxygenated Hb content (>5g/dL). Rarely it may be caused by ↑ sulphaemoglobin, methaemoglobin, or COHb. Cyanosis may be peripheral affecting only cutaneous areas, or central when mucous membranes of the mouth and tongue are also discoloured.
•Patent ductus arteriosus (differential cyanosis, i.e. cyanosed toes, but not fingers, is pathognomonic of this condition).
•Chronic obstructive pulmonary disease (COPD).
•Partial anomalous pulmonary venous drainage (APVD).
•Ingestion of oxidizing agents, e.g. phenacetin, inorganic nitrates, local anaesthetic.
Cyanosis arising from pulmonary disease can be reversed by administration of oxygen (O2) to improve alveolar O2 uptake. O2 has no effect where right-to-left shunts are the cause. Central cyanosis may be underestimated with significant anaemia and is more apparent in patients with polycythaemia. In methaemoglobinaemia, the arterial concentration of O2 is normal. This condition can be treated with IV methylthioninium chloride (methylene blue) ( Chapter 11).
•TTE (proceeding to TOE if shunt is suspected).
•CT chest (if AVM is suspected).
•Cardiac MRI (if APVD is suspected).
OHCM 10e, p. 34.
Patients may use the term diarrhoea to describe loose stools, ↑ frequency of defecation, ↑ volume of stool, steatorrhoea, melaena, or faecal incontinence ( Incontinence: faecal, p. 60).
•Associated features (abdominal pain, vomiting, mucus, or blood PR).
•Is anyone else in the household affected?
•Infection (including ‘traveller’s diarrhoea’).
•Other tumour, especially villous adenoma.
•Ischaemic colitis/bowel infarction.
•Other drugs, e.g. metformin, orlistat.
•Overindulgence in fruit or vegetables.
•Carcinoid syndrome (uncommon).
•Medullary carcinoma of the thyroid (uncommon).
•Bile salt diarrhoea (previous ileal disease or surgery).
•Dumping syndrome (previous gastric surgery).
•Malabsorption (cf. pancreatitis, lymphangiectasia, coeliac).
•Stool culture, hot stool for parasites.
•Clostridium difficile toxin in stool.
•High rectal swab for parasites. (Note: giardiasis is diagnosed on duodenal biopsy.)
•Rectal examination, proctoscopy, sigmoidoscopy ± biopsy.
•Small bowel follow-through contrast studies.
•U&E (exclude haemolytic uraemic syndrome (HUS), especially in children).
•Antigliadin, antiendomysial antibodies and anti-tissue transglutaminase (tTG) (coeliac disease).
•Serum gut hormone profile (gastrin, vasoactive intestinal peptide (VIP), glucagon—seek expert advice).
•24h urine for 5-hydroxyindole acetic acid (5HIAA).
•Serum calcitonin (medullary carcinoma of the thyroid).
•Lactose hydrogen breath test (for lactose intolerance).
•14C-xylose breath test (bacterial overgrowth in the small bowel).
•Mesenteric angiography (ischaemia).
Investigations must be guided by history and examination findings. If the patient is an inpatient, they should be isolated until infection is excluded. Consider HIV and other immune disorders if an unusual bowel organism is found.
Dizziness is a term that may be used to describe a variety of symptoms, e.g. spinning (rotatory vertigo), light-headedness, muzzy feeling, or unsteadiness on walking. It is therefore important to establish precisely what the patient means by dizziness.
Loss of consciousness or ‘blackout’ may not be reported by the patient and an eyewitness account is important. Enquire about any awareness of abnormal heart beat (rhythm-induced syncope), chest pain (ischaemia), neurological symptoms (cerebrovascular disease), preceding micturition, change of posture, or unusual sensations (prodromal epileptic symptoms, e.g. strange taste or smell) prior to the collapse.
•Rotatory sensation lasting >10s and precipitated by movement or position—vestibular cause such as labyrinthitis, Ménière’s disease, cerebello-pontine angle tumour (acoustic neuroma).
•Rotatory sensation lasting 2 or 3s and precipitated by movement—cervical spondylosis.
•Non-rotatory sensation lasting 2 or 3s and precipitated by movement, position, or standing up—cervical spondylosis, cerebrovascular disease, postural hypotension, cardiac arrhythmia (usually back to normal in minutes), epilepsy (incontinence is common and return to normal may take hours).
•MRI or CT cerebello-pontine angle.
•24h ambulatory ECG monitoring.
•Vasovagal: pain, fear, prolonged standing, excess heat, alcohol, or food.
•Micturition (often elderly men standing up during the night to urinate).
•Defecation (often elderly women with constipation).
•Coughing: chronic airways disease.
•Autonomic dysfunction (diabetic neuropathy, Shy–Drager syndrome).
•Drugs (antihypertensives, diuretics, nitrates, tricyclics; dehydration and sodium depletion).
•Drugs: alcohol, illicit drugs.
•Cardiac: arrhythmias, outflow obstruction (aortic stenosis, hypertrophic obstructive cardiomyopathy, myxoma).
•Hyperventilation and anxiety.
•Acute cerebrovascular disease: transient ischaemic attack (TIA), stroke, SAH.
•Acute vascular obstruction: PE, MI.
•Hypoglycaemia: poorly controlled diabetes.
For guidance on driving in the United Kingdom (UK), see http://www.dvla.gov.uk.
Brignole M, Alboni P, Benditt DG, et al.; Task Force on Syncope, European Society of Cardiology. Guidelines on management (diagnosis and treatment) of syncope. Eur Heart J 2004; 25: 2054–72.
Dysarthria is difficulty in articulating words. The patient may complain of ‘slurred speech’. Dysphasia is a difficulty in the formation of speech due to interference with higher mental function. These disturbances often occur together, most commonly in the context of a stroke.
Damage to Wernicke’s area causes a receptive dysphasia. Speech may be fluent, but meaning is lost. Damage to Broca’s area causes an expressive dysphasia. Speech is non-fluent and the patients are aware they are not using the right words.
Causes of dysphasia include stroke (usually with right hemiparesis, arm more affected than leg) or SOL. Psychosis, especially schizophrenia, may cause a similar picture—the so-called ‘word salad’.
•Stroke (internal capsule or extensive lesion of the motor cortex—acute).
•Midbrain or brainstem tumour.
•Cerebellar disease (haemorrhage, infarct, MS, hereditary ataxia, alcoholic or paraneoplastic degeneration).
•Syringobulbia (chronic, progressive).
•Neuromuscular (myasthenia gravis (MG), dermatomyositis, myotonic dystrophy).
•Acute alcohol or drug intoxication.
Dysarthria may be more obvious when the (English-speaking!) patient is invited to say ‘Baby hippopotamus’, ‘British constitution’, etc.
•Carotid Doppler studies (especially if bruit).
•Serum muscle enzymes (polymyositis).
OHCM 10e, pp. 86–7.
Dysphagia is difficulty in swallowing. The patient may have associated odynophagia (painful swallowing) or regurgitation of food (immediate or delayed?). Elicit whether the dysphagia is for liquid, solids, or both. Is it intermittent or progressive? Are there associated symptoms?
A careful physical examination is mandatory. Pay special attention to the lower cranial nerves; search for lymph nodes in the supraclavicular fossae. Palpate the thyroid and percuss for retrosternal enlargement.
•Benign oesophageal stricture 2° to chronic acid reflux.
•Stroke (bilateral internal capsule cerebrovascular accidents (CVAs)—pseudo-bulbar palsy).
•Oesophageal web (+ iron deficiency anaemia = Plummer–Vinson (Patterson–Kelly–Brown) syndrome).
•Muscular problem (MG, dermatomyositis, myotonic dystrophy).
•Bulbar palsy (MS, MND, poliomyelitis).
•Scleroderma (including CREST syndrome— OHCM 10e, Chapter 12).
•Infection (usually acute pain on swallowing).
•Mediastinal mass (goitre, carcinoma of the bronchus, enlarged left atrium, aortic aneurysm).
•Oesophageal manometry studies ( Gastrointestinal physiology, pp. 526–527).
•Cranial CT or MRI (if neurological signs).
•Acetylcholine (ACh) receptor antibodies and Tensilon® (edrophonium). test if MG is suspected ( Edrophonium (Tensilon®) test, p. 631).
Note: consider HIV testing if there is oesophageal Candida, or herpes simplex or cytomegalovirus (CMV) infection in the oesophagus.
OHCM 10e, p. 64, pp. 250–1.
Is the pain unilateral or bilateral? Is it constant or intermittent? Precipitating factors or trigger points? A full examination of the head and neck is required in addition to a detailed neurological and systemic examination.
•Temporal arteritis (TA). ►► Risk of visual loss ( OHCM 10e, Chapter 11).
•Herpes zoster (shingles or post-herpetic neuralgia).
•Temporomandibular joint dysfunction.
•Temporal artery biopsy if TA strongly suspected. (►► Must be performed rapidly—within days—if steroid treatment is commenced. However, do not withhold corticosteroid therapy for this reason!) Because of ‘skip’ lesions, false −ve biopsies may be encountered. Be guided by the full clinical picture, rather than reliance on a single test.
•Plain radiographs or CT imaging of frontal or maxillary sinuses.
•MRI to exclude MS, basilar aneurysm, trigeminal schwannoma, neurofibroma as causes of TN.
•MRI of the cervical spinal cord to exclude syringobulbia if pain is accompanied by brainstem signs.
Headache, pp. 49–50 and OHCM 10e, p. 64, pp. 456–7.
Defined as temperature >38.3°C on several occasions, lasting 3 weeks or more. It is very important to take a full history and consider infectious contacts, recent travel abroad, recent surgery and dental treatment, sexual history, and risk factors for HIV.
Examine for heart murmurs, splinter haemorrhages, splenomegaly, lymphadenopathy, and rashes/pruritus (see Table 1.6).
| Infection | Abscesses (e.g. subphrenic, pelvic, lung), osteomyelitis, TB, endocarditis, parasites, rheumatic fever, brucellosis, toxoplasmosis, Lyme disease, histoplasmosis, viral (especially Epstein–Barr virus, CMV, hepatitis, and HIV) |
| Malignancy | Lymphoma, leukaemia, hypernephroma, ovary, lung, hepatoma |
| Connective tissue | Polyarteritis nodosa, SLE, RhA, Still’s disease, TA |
| Other | Sarcoidosis, atrial myxoma, drug fever, IBD, factitious |
•Re-take the history and re-examine the patient (something might have been missed or new symptoms/signs may have developed).
•Serology for Brucella and Toxoplasma.
•All biopsy material should be sent for culture, including TB.
•Blood cultures (serial may be necessary).
•Autoimmune profile (antinuclear antibodies (ANA), rheumatoid factor (RF), ANCA, etc.).
•Bone marrow aspirate/trephine/culture for TB with Ziehl–Neelsen (ZN) stain.
•Consult microbiology or infectious disease consultant for advice.
•Stool cultures and fresh stool for ova, cysts, and parasites.
•Repeat serological investigation for changing titres (2–3 weeks).
•Thick and thin blood film for malaria and parasites.
•TTE or TOE to exclude endocarditic vegetations.
•CT chest, abdomen, and pelvis.
►► Always re-examine the patient for evolving new signs if the cause remains unknown.
OHCM 10e, pp. 442–3.
►► A first fit in an adult requires careful evaluation since the probability of an underlying structural lesion ↑ with age.
Take a careful history, preferably from a witness as well as the patient. Most lay persons will recognize a generalized tonic–clonic fit. However, the occurrence of a few ‘epileptiform’ movements in patients with syncopal episodes ( Dizziness and syncope, pp. 34–35) may cause diagnostic uncertainty.
•Aura preceding the episode. ► Temporal lobe epilepsy—olfactory or gustatory auras (not necessarily followed by convulsions).
•Loss of consciousness—how long? Often overestimated by witnesses!
•Focal or generalized convulsive movements. Note: a clear history of a tonic–clonic fit commencing in a limb and progressing to a more generalized convulsion is highly suggestive of a structural intracerebral lesion; cranial imaging is mandatory.
•Central cyanosis (tonic phase).
•Alcohol intake. Remember: alcohol withdrawal fits as well as acute intoxication.
•Drug history—prescribed and recreational.
•History of insulin-treated diabetes or type 2 diabetes treated with oral secretagogues, i.e. sulfonylureas, repaglinide, nateglinide. Note: metformin and thiazolidinediones as monotherapy do not cause significant hypoglycaemia.
A full general and neurological examination is needed, specifically including:
•Meningism, i.e. nuchal rigidity, +ve Kernig’s sign (meningoencephalitis).
•Cutaneous rash or ecchymoses (? bleeding diathesis).
•Evidence of head trauma (preceding fit or as a consequence).
•Signs of chronic liver disease.
•Focal neurological deficit. ► Third nerve palsy in an intracranial SOL, including aneurysm of the posterior communicating artery. Sixth nerve lesion may act as a ‘false localizing sign’ in ↑ ICP.
•MedicAlert™ bracelet (history of epilepsy or diabetes—search personal belongings).
Bilateral extensor plantar reflexes can occur after a generalized fit without a structural brain lesion and there may be transient hemiparesis (Todd’s paresis).
•Epilepsy ( OHCM 10e, Chapter 10).
•Hypoglycaemia (acute, severe, history of diabetes?).
•Hyponatraemia (usually <110mmol/L or rapid development).
•Hypocalcaemia ( OHCM 10e, Chapter 14).
•Hypomagnesaemia (may accompany hypocalcaemia).
•Alcohol withdrawal. ►► Risk of associated hypoglycaemia.
•Discontinuation of anticonvulsant medication.
•Infection—viral encephalitis or bacterial meningitis. ►► Consider intracerebral abscess, tuberculoma in predisposed patients.
•Encephalopathy—hepatic, uraemic, hypertensive, thyrotoxic (rare—‘thyroid storm’).
•Stroke—cerebral infarct, haemorrhage.
•Venous plasma glucose (fingerprick test at bedside useful as ‘screen’—but can be unreliable).
•Serum Ca2+, magnesium (Mg2+), phosphate (PO43−).
•LP ( Lumbar puncture, pp. 584–589).
•Serum prolactin (PRL) (may be ↑ after generalized convulsions, but not pseudo-seizures).
•ABGs—remember transient lactic acidosis following generalized tonic–clonic convulsions.
•Blood ethanol (may be undetectable in withdrawal state).
‘Pseudo-seizures’ may be encountered in patients with atypical recurrent fits (usually long history of epilepsy) and this is unlikely in an adult presenting with a first fit. ► In UK, the DVLA prohibits driving for 12 months following a first fit.
OHCM 10e, pp. 490–2.
Denotes inappropriate breast milk production, i.e. in the absence of pregnancy. The commonest cause is hyperprolactinaemia (↑ PRL) due to a pituitary microprolactinoma of <10mm in diameter ( Precocious puberty, p. 179). Prolactinomas (usually macroadenomas) may cause galactorrhoea in men.
Note: other disease in the pituitary region, certain drugs, and several systemic disorders may be associated with ↑ PRL ( OHCM 10e, Chapter 5).
•This has been described in premenopausal women occurring after the conclusion of:
•Treatment with the combined contraceptive pill.
•Breastfeeding (for >6 months afterwards).
•↑ sensitivity of lactogenic tissue PRL is postulated, but the mechanism remains uncertain. In part, this may reflect difficulties that can arise in determining whether PRL is persistently elevated. Menstrual disturbances have been described.
•The differential diagnosis and investigation of hyperprolactinaemia are considered in Galactorrhoea (hyperprolactinaemia), pp. 172–173.
•Serum PRL ( Galactorrhoea (hyperprolactinaemia), pp. 172–173).
•Repeated measurements under controlled conditions may be required since PRL is a ‘stress’ hormone and may be ↑ by venepuncture.
Note: if ↑ PRL is confirmed, further investigations to exclude causes other than a prolactinoma are required.
•Pituitary imaging (CT, or preferably MRI) and visual field testing (Goldmann) may also be indicated if a macroprolactinoma is suspected (PRL concentrations usually very high).
Note: if there is doubt about the nature of the nipple discharge, further specialized investigations may be required on the fluid, including:
Clear fluid may result from benign breast disease.
Note: bloody discharge should prompt urgent specialist investigations to exclude carcinoma of the breast:
OHCM 10e, p. 237.
Kleinberg DL, Noel GL, Frantz AG. Galactorrhoea: a study of 235 cases, including 48 with pituitary tumors. N Engl J Med 1977; 296: 589–600.
Gout is a disease of deposition of monosodium urate monohydrate crystals in tissues and relates to hyperuricaemia. Hyperuricaemia is due to an imbalance between purine synthesis and uric acid excretion. Episodes of acute gout may be precipitated by alcohol, trauma, dietary changes, infection, chemotherapy, or surgery. Commoner in men and very rare in premenopausal women.
•Inflammatory arthritis, classically monoarthritis or oligoarthritis affecting the first metatarsophalangeal (MTP) joint of the foot but can affect any joint, including the spine.
•Tophi—urate deposits in tendons, ear pinnae, and joints.
•Urolithiasis and renal disease.
•Urate crystals demonstrated in the synovial fluid or tissues—negatively birefringent on polarized light microscopy.
•Serum urate (not always ↑ in an acute episode, and a normal urate level does not exclude the diagnosis).
•X-ray—soft tissue swelling and punched-out bony erosions.
•Autoimmune profile (AIP) (to exclude rheumatoid).
•Microscopy of synovial fluid (Gram stain and culture).
•NSAIDs, colchicine, intra-articular steroids, or oral steroids.
•Avoid precipitating factors and purine-rich foods.
•Urate-lowering therapy indicated for tophi, recurrent attacks, and urine/renal disease, e.g.
•Allopurinol (xanthine oxidase inhibitor).
Note: asymptomatic hyperuricaemia is commoner than gout, and a high serum urate level with coexistent arthritis is not necessarily due to crystal deposition. Consider important other causes, especially infective arthritis and pseudo-gout.
Calcium pyrophosphate crystal deposition causing acute arthritis or chondrocalcinosis. Crystals are weakly positively birefringent on polarized light microscopy. Associations include old age, dehydration, hyperparathyroidism, hypothyroidism, haemochromatosis, acromegaly, RhA, and osteoarthritis (OA).
OHCM 10e, p. 548.
Gynaecomastia is benign bilateral hyperplasia of glandular and fatty breast tissue in the ♂. The balance between androgens and oestrogens is thought to be of importance in the pathogenesis; many conditions may influence this ratio. Most commonly, it appears transiently during normal puberty (detectable at some stage in ~50% of cases). Gynaecomastia may also be caused by specific endocrine disease or be associated with certain chronic diseases. Treatment with certain drugs is a common cause (~30% of cases) and arises via several mechanisms. Investigations will be guided by the individual circumstances. A careful drug history and thorough physical examination are required, particularly in the post-adolescent period.
When indicated, and after excluding causes such as congenital syndrome and drug therapy, investigations are principally directed at:
•Excluding endocrine carcinoma (rare).
•Identifying associated chronic diseases.
Note:
•Simple obesity is not usually a cause of true gynaecomastia, i.e. the glandular element is not ↑.
•↑ serum PRL in isolation does not cause gynaecomastia.
•Unilateral, eccentric breast enlargement should prompt exclusion of breast carcinoma (rare).
•Physiological states (transient):
•Klinefelter’s syndrome (47,XXY; mosaics).
•2° hypogonadism, e.g. mumps orchitis.
•Androgen resistance syndromes, e.g. testicular feminization.
•↑ tissue aromatase activity (converts androgens to oestrogens).
•Tumours producing human chorionic gonadotrophin (hCG).
•Drugs: oestrogens (prostatic carcinoma, transsexuals), spironolactone, cimetidine, digoxin, cytotoxic agents, marijuana.
•Hyperthyroidism (↑ serum sex hormone-binding globulin (SHBG)).
•SHBG (affinity of SHBG is higher for testosterone than for oestrogens, therefore ↑ SHBG causes disproportionate ↓ in free testosterone levels).
•Dehydroepiandrosterone sulfate (DHEAS).
•Abdominal CT or MRI imaging (for suspected adrenal tumours).
•Fine-needle aspiration (FNA).
OHCM 10e, p. 230.
Braunstein GD. Gynecomastia. N Engl J Med 1994; 328: 490–5.
This literally means vomiting blood and is often associated with melaena (passage of black tarry stools).
•Chronic peptic ulceration (e.g. duodenal ulcer (DU) or gastric ulcer (GU)) accounts for 50% of cases of bleeding from the upper GI tract.
•Acute GUs or gastric erosions.
•Drugs (e.g. NSAIDs) or alcohol.
•Gastric carcinoma (uncommon).
•Full history, including drugs, alcohol, past history, indigestion, etc.
•FBC. (Note: Hb will take ~24h to fall; initially may be normal.)
•Urgent upper GI tract endoscopy.
•Check Helicobacter pylori serology ± urea breath test.
OHCM 10e, p. 30, p. 256.
In health, adults pass between 500,000 and 2,000,000 red cells over a 24h period. Haematuria implies the passage of excess blood that may be detectable using dipsticks (microscopic haematuria) or may be obvious to the naked eye (macroscopic haematuria).
•Glomerular disease, e.g. 1° glomerulonephritis, 2° glomerulonephritis (SLE, vasculitis, infection).
•Vascular or interstitial disease due to hypersensitivity reactions, renal infarction, papillary necrosis, or pyelonephritis.
•Renal epithelial or vascular tumours.
•Lower renal tract disease, e.g. tumours, stones, infection, drug toxicity (e.g. cyclophosphamide), foreign bodies, or parasites.
•Systemic coagulation abnormalities, e.g. platelet or coagulation factor abnormalities such as profound thrombocytopenia or DIC.
•Urinalysis—dipstick, microscopic examination, culture.
•Specialist investigation,* e.g. angiography, CT or MRI scanning.
Note: ideally these tests (*) should be arranged after discussion with either a nephrologist or a urologist.
OHCM 10e, p. 80, p. 294.
This describes coughing up blood or bloodstained sputum and can vary from faint traces of blood to frank bleeding. Before embarking on investigation, it is essential to ensure that the blood is coughed up from the respiratory tract and is not that of epistaxis or haematemesis (easily confused).
•Infective, e.g. acute respiratory infection, exacerbation of COPD.
•Pulmonary infarction, e.g. PE.
•Uncommon causes, e.g. idiopathic pulmonary haemosiderosis, Goodpasture’s syndrome, microscopic vasculitis, trauma, haematological disease (e.g. ITP or DIC).
•Colour of blood provides clues (pink frothy in pulmonary oedema, rust-coloured in pneumonia).
•Check oxygen (O2) saturation.
•Arrange bronchoscopy after discussion with the respiratory team.
OHCM 10e, pp. 48–9.
Facial pain, p. 38.
Headache is an extremely common complaint. Most patients self-medicate and only a small proportion will seek medical advice. Headache may be acute or chronic, constant, recurrent, or gradually progressive. It may arise from structures within the cranial vault or from external causes ( OHCM 10e, Chapter 10).
Causes differ according to age; temporal arteritis is very uncommon in patients under ~55 years, for example. Migraine may be associated with classic features ( OHCM 10e, Chapter 10). Remember to enquire about the combined OCP—may exacerbate migraine. ‘Tension’ headaches predominate.
•‘Tension’ headache (very common; usually recurrent and stereotyped).
•Migraine. Although common, many patients who believe they have ‘migraine’ probably have ‘tension’ headaches. Classic migraine predominantly affects adolescents and young adults.
•As part of a generalized viral illness, e.g. ‘flu’.
•Causes of ↑ ICP ( OHCM 10e, Chapter 10).
•Acute infective meningitis (bacterial, viral most commonly).
•Encephalitis (most commonly viral, e.g. herpes simplex).
•Intracerebral tumour (1° or 2°, benign or malignant).
•Rubeosis iridis (2° glaucoma in patients with advanced diabetic eye disease).
•Referred pain, e.g. from dental caries or sepsis.
•Arterial hypertension; malignant or accelerated phase; essential hypertension is rarely the cause of headache.
•TA. ►► Visual loss preventable with prompt corticosteroid therapy ( OHCM 10e, Chapter 10).
•Benign intracranial hypertension (mimics intracerebral tumour).
•Pneumonia caused by Mycoplasma pneumoniae may be associated with headache (meningoencephalitis).
•Nocturnal hypoglycaemia (often unrecognized) may cause morning headaches in patients with insulin-treated DM.
•Analgesia-withdrawal headache ( OHCM 10e, Chapter 10).
•Hangover following alcohol excess.
•Chronic hypercalcaemia (rare).
•ESR (►► TA—exclude with urgency).
•LP ( Lumbar puncture, pp. 584–589).
•Skull X-ray (SXR) ± cervical spine X-ray.
•Sinus X-rays (may be local tenderness in sinusitis).
•Cranial CT ( Computed tomography, pp. 598–600).
•CXR (cerebral metastases from bronchogenic carcinoma).
•Intraocular pressure measurement and refraction.
•Cerebral angiography (if aneurysm or AVM).
OHCM 10e, p. 64, pp. 456–7.
Auscultation of the heart should be conducted over several cardiac cycles. Heart sounds and murmurs are traditionally assessed at the apex, lower left sternal edge, aortic area, and pulmonary area, but they may radiate into other regions such as the axilla or carotid arteries. The carotid pulse should be palpated simultaneously in order to time cardiac events. The following should be identified:
•First (S1) and second (S2) heart sounds.
•Added heart sounds such as third (S3) or fourth (S4) heart sounds, opening snaps, ejection clicks, and prosthetic sounds.
•Murmurs, including location, intensity, and characteristics.
The first heart sound is produced by closure of the mitral and tricuspid valves. It is best heard at the apex and is timed just prior to the carotid pulse. The second heart sound is caused by closure of the aortic (A2) and pulmonary (P2) valves and is heard just after carotid pulsation. Closure of the pulmonary valve is slightly delayed relative to the aortic valve and so the second heart sound is normally split. This split is exaggerated by inspiration (see Table 1.7).
Normal and abnormal heart sounds are shown in Table 1.7.
The third heart sound is heard just after S2 and arises as a consequence of rapid ventricular filling and volume overload. The fourth heart sound occurs just before S1 and is caused by atrial contraction against a stiff ventricle or pressure overload. Abnormal valves may cause extra heart sounds on opening, e.g. an opening snap or ejection click. The heart sounds generated by artificial valve closure are referred to as prosthetic heart sounds. These should be crisp, not muffled (see Table 1.8).
Table 1.7 Normal and abnormal heart sounds
| Description | Diagram | Differential diagnosis |
| Normal |  |
Normal |
| Loud S1 |  |
Hyperdynamic circulation—anaemia, fever, thyrotoxicosisMitral stenosis Lest atrial myxoma |
| Soft S1 |  |
Low cardiac output Heart failure Tachycardia Mitral regurgitation Chronic obstructive pulmonary syndrome Systemic hypertension Dilated aortic root |
| Loud S2 (A2) |  |
Aortic stenosis Cardiac failure |
| Soft S2 (A2) |  |
Pulmonary failure |
| Soft S2 (P2) |  |
Pulmonary hypertension |
| Loud S2 (P2) |  |
Normal physiological splitting exaggerated in: right bundle branch block, pulmonary stenosis, pulmonary hypertension |
| Normal split S2 |  |
Atrial septal defect |
| Fixed splitting S2 |  |
Left bundle branch block Systemic hypertension Aortic stenosis |
| Reversed splitting S2 |  |
Innocent murmurs are generated by turbulent flow such as in high cardiac output states, e.g. pregnancy, fever, anaemia, and thyrotoxicosis. They have the following characteristics:
•Maximal at the left sternal edge.
•Abnormal regurgitation through a structure that is normally closed in systole, e.g. AV valve, septum (pansystolic).
•Normal systolic flow through a narrowed or stenosed valve, e.g. aortic valve, pulmonary valve (ejection systolic).
•Incompetence of the cardiac outflow valves, e.g. aortic or pulmonary valves.
•Narrowing of the cardiac inflow valves, e.g. mitral or tricuspid valves.
•Mixed valvular disease (stenosis and regurgitation).
Murmurs arising from left heart structures are accentuated in expiration, whereas right heart murmurs are augmented in inspiration (see Table 1.9).
Table 1.8 Heart murmurs
| Pansystolic murmur |  |
Mitral regurgitation Tricuspid regurgitation VSD |
| Late systolic murmur |  |
Mitral valve prolapse Hypertrophic obstructive cardiomyopathy Aortic coarctation |
| Ejection systolic murmur |  |
Aortic stenosis Pulmonary stenosis |
| Early diastolic murmur |  |
Aortic regurgitation Pulmonary regurgitation |
| Mid-diastolic murmur |  |
Mitral stenosis Tricuspid stenosis |
| Mixed murmur |  |
Mixed valvular heart disease Patent ductus arteriosus AVMs Collateral circulations |
| S3 |  |
Normal (young adult) Left ventricular failure Right ventricular failure Mitral regurgitation Constrictive pericarditis (pericardial ‘knock’) |
| S4 |  |
Normal (elderly) Left ventricular hypertrophy Left ventricular diastolic dysfunction Systemic hypertension Aortic stenosis Acute ischaemia |
| Opening snap |  |
Mitral stenosis Tricuspid stenosis |
| Ejection click |  |
Aortic stenosis Systemic hypertension Pulmonary stenosis Pulmonary hypertension |
| Mid-systolic click |  |
Mitral valve prolapse |
| Prosthetic heart sounds |  |
Artificial valve replacement |
Measure the liver edge below the (right) costal margin after percussing out the upper and lower borders. Bruits may be heard in hepatoma and a friction rub may occur with malignant deposits. Other signs may suggest the underlying diagnosis ( Pitfalls below).
•Hepatitis/cirrhosis (usually alcoholic or infectious, e.g. Epstein–Barr virus (EBV), viral hepatitis).
If so, consider amoebic and hydatid cysts, schistosomiasis, and malaria.
•FBC, film, LDH (leukaemia, lymphoma).
•Virology (EBV, CMV, and hepatitis A, B, and C antibody serology).
•Prothrombin time (PT) (hepatocellular damage).
•γ-glutamyl transpeptidase (GGT), MCV (alcohol).
•ALP (obstructive causes; malignant deposits if isolated ↑).
•Serum Igs may be polyclonal ↑ in immunoglobulin G (IgG) (autoimmune hepatitis), immunoglobulin A (IgA) (alcoholic liver disease), or immunoglobulin M (IgM) (PBC).
•Serum protein electrophoresis (myeloma, amyloid).
•Reticulocytes, bilirubin (if ↑, suggests haemolysis).
•Haemoglobinopathy screen (thalassaemia/sickle disorders).
•USS to assess liver texture, splenomegaly, lymphadenopathy.
•CXR and cardiac investigations (cardiomyopathies, sarcoid).
•α-fetoprotein (AFP) (primary hepatocellular carcinoma).
•Serum ferritin, transferrin saturation, DNA analysis (haemochromatosis).
•Mitochondrial antibodies and autoimmune markers, e.g. ANA (autoimmune hepatitis), ANCA (primary sclerosing cholangitis).
•Caeruloplasmin, urinary copper (Wilson’s disease).
•α1-antitrypsin (α1-antitrypsin deficiency).
•Hepatomegaly is a common sign but may not necessarily implicate liver pathology.
•End-stage cirrhosis may commonly present with a small, shrunken liver.
OHCM 10e, p. 63, p. 604.
The pattern of the eruption varies from mild to dense with the involvement of several dermatomes. Complications may occur if involvement of the eye, motor nerves, and autonomic nerves (bladder), or when the disease presents as an encephalomyelitis or purpura fulminans.
►► In the immunocompromised host, zoster is more likely both to occur and to disseminate.
•Confirm the diagnosis by isolation of the virus from the vesicular fluid.
•Consider underlying disorders if recurrent or severe attacks.
•Look for lymphadenopathy (Hodgkin’s or other lymphoma).
•FBC, blood film, LDH (↑ in lymphoma).
•Serum protein electrophoresis (myeloma, amyloid).
•Serology for HIV (zoster is common in adult HIV individuals).
The rash is not always unilateral—it may be bilateral.
OHCM 10e, p. 462.
Abnormalities of lipid metabolism are common in Western societies. Populations with high levels of cholesterol have high rates of vascular morbidity, especially cardiovascular disease (CVD), and premature death. Vascular risk can be estimated from published risk tables or calculators.
Various classifications of hyperlipidaemia exist, each with a characteristic lipid profile. Many patients with lipid disorders have cutaneous markers, which identify to a certain extent the type of lipid abnormality.
•Grey-yellow plaques or xanthomata in tendons, especially the forearm and Achilles. Usually indicative of elevated low-density lipoprotein (LDL) cholesterol.
•Corneal arcus, a thin white rim around the iris—whilst this is common in the elderly, it is not a sign of ↑ LDL, except in the under 40s.
•Yellow, fatty deposits or xanthelasmata around the eyelids—associated with elevated LDL, these painless, non-tender plaques are common in the elderly.
•Yellow streaks in palmar creases—palmar xanthomata are associated with IDL cholesterol.
•Plaques over tibial tuberosities and elbows—tubero-eruptive xanthomata. Often seen with hepatosplenomegaly with elevated triglycerides.
•Eruptive xanthomata—in severe triglyceridaemia, associated with pancreatitis and hepatomegaly.
Hyperlipidaemia may be 2° to drugs such as corticosteroids, oestrogens, and progestogens, as well as a range of conditions such as hypothyroidism, myeloma, and alcoholism, each of which may be associated with specific clinical signs.
Blood pressure (BP) measurements are graded into a number of categories by the British Hypertension Society (see Box 1.1):
Box 1.1 British Hypertension Society grading of hypertension
| Optimal blood pressure | <120/80 |
| Normal blood pressure | <130/85 |
| High-normal blood pressure | 130–139/85–89 |
| Grade 1 hypertension (mild) | 140–159/90–99 |
| Grade 2 hypertension (moderate) | 160–179/100–109 |
| Grade 3 hypertension (severe) | ≥180/110 |
Hypertension should not be diagnosed on the basis of a single BP reading. Unless urgent treatment is required, e.g. malignant hypertension, the BP should be rechecked over a number of weeks to confirm the presence of sustained hypertension.
Remember that the cause of hypertension in most (95%) cases is unknown (‘essential’ hypertension). One of the following identifiable causes can be found in the remaining 5%:
•Renal disease, e.g. polycystic kidney disease.
•Renovascular disease, e.g. renal artery stenosis (RAS).
•Endocrine disease, e.g. Cushing’s syndrome, Conn’s syndrome, phaeochromocytoma, acromegaly.
•Drugs, e.g. NSAIDs, OCP, steroids, erythropoietin (Epo), sympathomimetics, liquorice.
•Pregnancy, e.g. pre-eclampsia, eclampsia.
•To confirm the presence and severity of hypertension.
•To assess overall cardiovascular risk.
•To identify target organ damage.
•To identify 2° causes (where present).
•Urinalysis (protein, blood, glucose).
•Plasma glucose (ideally fasted).
•Lipid profile (ideally fasted).
CXR, urine microscopy and culture, and echocardiography are not required routinely but should be considered where indicated by your initial assessment and investigation of the patient. The use of 24h ambulatory BP monitoring is often useful where clinic readings are thought to be unreliable because of ‘white coat’ hypertension.
Where more detailed assessment is required (for instance, to rule out a 2° cause or to identify end-organ damage), the following investigations may be appropriate:
•Renal USS (to assess overall renal morphology).
•Renal artery Doppler studies (for RAS).
•Renal artery magnetic resonance (MR) imaging (for RAS).
•Captopril renogram (for RAS).
•Renal vein renin measurements (for Conn’s syndrome).
•Renin and aldosterone studies for Conn’s syndrome (consult your local endocrine laboratory).
•Investigations for Cushing’s syndrome.
•Investigations for acromegaly.
•Urinary catecholamine (and metabolite) excretion.
Williams B, Poulter NR, Brown MJ, et al. Guidelines for management of hypertension: report of the fourth working party of the British Hypertension Society, 2004—BHS IV. J Hum Hypertens 2004; 18: 139–85.
Alteration of bowel habit, p. 9; Constipation, pp. 29–30; Diarrhoea, pp. 32–33.
•Any cause of diarrhoea ( OHCM 10e, Chapter 6).
•Overflow diarrhoea from severe constipation.
•Coeliac disease (diarrhoea is a variable feature).
•Infectious diarrhoea ( OHCM 10e, Chapter 1).
•Hyperthyroidism (may cause diarrhoea; rare cause of incontinence).
•Carcinoma of the colon (stricture).
•Diverticular disease of the colon (acute attack, chronic stricture).
•Neurological (multiple CVAs, MS, spina bifida, post-childbirth neuropathy) may often be associated with sphincter disturbances.
•Drugs, e.g. laxatives, orlistat (causes fat malabsorption).
•Causes of steatorrhoea ( OHCM 10e, Chapter 6).
•Intestinal hurry, e.g. post-gastrectomy ( OHCM 10e, Chapter 6).
•Diabetic diarrhoea (autonomic neuropathy—rare; diagnosis of exclusion but may cause nocturnal faecal incontinence).
•Stool cultures (ova cysts, parasites). Note: Clostridium difficile—relatively common in patients who have received recent antibiotic therapy.
•FBC (anaemia, especially iron deficiency).
OHCM 10e, p. 58.
Anuria, p. 14.
•Common causes of polyuria ( OHCM 10e, Chapter 7); these may present as, or aggravate, urinary incontinence.
•Acute or chronic confusional state (common; loss of voluntary sphincter control).
•UTI (very common—always exclude).
•Drug-induced, e.g. thiazide or loop diuretics; α-adrenergic blockade, e.g. doxazosin (uncommon).
•Psychological, e.g. severe depression.
•Immobility, e.g. PD (Shy–Drager syndrome is uncommon).
•Other causes of autonomic neuropathy ( OHCM 10e, Chapter 10).
•Urinalysis for blood, protein, glucose, nitrates, and nitrites.
•MSU for culture and sensitivity (C&S).
•Plasma glucose (if glycosuria).
In selected patients, consider referral to urology or gynaecology services for consideration of:
•Post-voiding USS of the bladder.
•Pelvic imaging, e.g. CT scan.
OHCM 10e, pp. 648–9.
This term is often loosely used by patients to describe a variety of symptoms. These are often regarded as representing relatively minor, and usually intermittent, pathology. However, serious pathology, e.g. carcinoma of the stomach, may present as a vague complaint of ‘indigestion’. The symptoms may be retrosternal or abdominal. A detailed history is essential, focusing on features that raise the probability of serious pathology, e.g. dysphagia and weight loss.
Examination should include a search for the following signs, particularly in the middle-aged and elderly patients:
•Anaemia (especially iron deficiency—common).
•Troisier’s sign (malignant involvement of the left supraclavicular lymph nodes due to carcinoma of the stomach—rare).
Note: the presence of associated pathologies, e.g. pernicious anaemia ( OHCM 10e, Chapter 8)—↑ risk of stomach cancer—will alter the threshold for more detailed expert investigation. Carcinoma of the stomach is commoner in Japanese.
Peptic ulceration may have classic elements that point to the diagnosis. Non-ulcer dyspepsia is very common and is often treated empirically with antacids, H2 receptor antagonists, or H+ pump inhibitor drugs. The clinical challenge is to identify the patient for whom more detailed, and often invasive, investigation is indicated.
Alternative causes, e.g. cardiac ischaemia, should be considered in the differential diagnosis; similarities of the symptoms between cardiac and upper GI disorders are well recognized and sometimes pose considerable diagnostic difficulties.
•Peptic ulcer disease of the duodenum or stomach.
•Biliary colic (usually distinctive clinical features).
•Malignancy of the oesophagus, stomach, or rarely small intestine.
•Cardiac symptoms, usually ischaemia.
•Symptoms arising from other structures within the chest or abdomen.
•Upper GI endoscopy ± tissue biopsy.
•CK if MI/acute coronary syndrome (ACS) suspected.
•Troponin (T or I) if MI/ACS suspected.
•Serum amylase (normal in chronic pancreatitis; may be ↑ by a duodenal ulcer eroding the posterior wall).
•Barium swallow and meal (for oesophageal disease).
•CLO test for Helicobacter pylori.
•Urea 13C breath test for H. pylori.
•USS of the biliary tract ( Ultrasound, p. 802).
•CT abdomen (discuss with a radiologist).
•Serum gastrin (Zollinger–Ellison syndrome, OHCM 10e, p. 716).
•24h ambulatory oesophageal pH monitoring.
•Oesophageal manometry (oesophageal motility disorders).
Infective endocarditis is characterized by infection of the endocardial surface of the heart. The left heart valves are the most commonly affected, but the right heart valves and congenital heart lesions, such as VSDs, may also become infected. Vegetations (composed of the organism, white cells, platelets, and fibrous tissue) are formed at the site of infection. They give rise to periodic septicaemia and may embolize to other parts of the body. There is gradual destruction of the valve with ↑ valvular dysfunction, regurgitation, and heart failure.
•Pyrexia (low-grade or swinging).
•Pale conjunctivae suggestive of anaemia (of chronic disease).
•Clubbing (chronic low-grade infection).
•Cardiac murmur (new or changing).
•Splenomegaly (friction rub if splenic infarction is present).
•Microscopic haematuria (on urinalysis).
Embolic phenomena are common and produce clinical signs classically associated with infective endocarditis:
•Splinter haemorrhages (>5, sited in the proximal finger and toenail beds).
•Janeway lesions (palmar macular spots).
•Osler’s nodes (painful nodules on the palmar surface of the fingers or toes).
•Roth spots (retinal haemorrhages).
•Microvascular infarction (in the distal limbs).
Prendergast BD. Diagnostic criteria and problems in infective endocarditis. Heart 2004; 90: 611–13.
Task Force on Infective Endocarditis of the ESC. Guidelines on prevention, diagnosis and treatment of infective endocarditis. Eur Heart J 2004; 25: 267–76.
In health, the pulse is usually regular, although a minor degree of variation in heart rate with respiration (sinus arrhythmia) is common, particularly in children and young adults. In sinus arrhythmia, the heart rate ↑ with inspiration and ↓ with expiration. This is a benign phenomenon.
An irregular pulse can present as a symptom (with the patient complaining of an awareness of irregular or ‘missed’/‘extra’ heartbeats) or as a sign (incidental finding on clinical examination).
Most commonly the result of ventricular or supraventricular ectopic activity. Ectopic beats often occur after a certain number of sinus beats—thus in ventricular bigeminy, every other beat will be a ventricular ectopic beat and thus occur prematurely with reduced volume. In trigeminy, every third beat will be early.
Can also be evident in second-degree AV block (Mobitz type I or II).
•Multiple ectopic beats (supraventricular or ventricular).
•Atrial flutter with variable AV block.
The key to diagnosis is to record an ECG, whilst the pulse irregularity is present. If the paroxysmal irregularity is infrequent, this can prove challenging. A 12-lead ECG is mandatory and may provide an immediate diagnosis. If not, a number of ambulatory ECG monitoring techniques are available:
•24h ambulatory ECG monitoring.
•Implantable loop recorder (ILR).
The choice of technique should be guided by how frequently the irregularity is thought to occur.
Additional investigations depend upon the nature of the suspected arrhythmia:
•CXR (to assess heart size and valvular calcification).
•Echocardiogram (if structural heart disease suspected).
•Exercise treadmill test (if IHD suspected, or to provoke arrhythmias thought to be exercise-related).
This defines the yellow discoloration of the sclerae, mucous membranes, and skin that occurs when bilirubin accumulates. Bilirubin is the major bile pigment in humans and is produced as an end-product of haem catabolism. Jaundice usually only becomes noticeable when the serum bilirubin level is >30–60µmol/L.
(See Table 1.10.)
•Can be pre-hepatic, hepatic, or post-hepatic.
•Hepatitis (viral, drugs, alcohol).
•Stones in the common bile duct.
•Carcinoma of the bile duct, head of the pancreas, or ampulla.
(See Fig. 1.2.)
•Clotting screen (often deranged in liver disease).
•Viral serology for hepatitis A virus (HAV), hepatitis B virus (HBV), and hepatitis C virus (HCV).
•Consider endoscopic retrograde cholangiopancreatography (ERCP).
•Liver biopsy may be indicated, depending on history, examination, and laboratory findings. Discuss with the gastroenterology team before embarking on this.
Table 1.10 Common causes of jaundice
| Pre-hepatic | Cholestatic | |
| Intra-hepatic | Post-hepatic | |
OHCM 10e, pp. 272–3.
•Ask about affected joints, site of origin, mono- or polyarticular, oligo-articular (e.g. 2–4 joints involved), migratory features, arthralgia (joint pain without swelling).
•Is the pain constant or intermittent?
•Aggravating or precipitating factors?
•Any associated neurological features?
•Associated redness or excessive warmth?
•Drug history (e.g. diuretic-induced).
•FBC—a normochromic normocytic anaemia is common in chronic inflammatory disorders. May be microcytic if long-standing inflammation or associated iron deficiency (e.g. induced by NSAIDs).
•ESR—non-specific marker of inflammation.
•Biochemistry screen, especially looking at bone profile and LFTs.
•Consider serum Igs and protein electrophoresis (myeloma).
•Consider USS, especially if soft tissue swelling.
•MRI can be useful to help visualize intra-articular structures.
•Bone scintigraphy (helps identify abnormal bone turnover).
•Dual X-ray absorptiometry (DEXA) scan (useful for diagnosis and monitoring of osteoporosis).
•Arthroscopy may help in selected cases.
•Joint aspiration (allows culture and examination of fluid for crystals).
The height and waveform of the internal jugular venous pulse (JVP) reflect right atrial pressure and haemodynamics. The JVP should be inspected with the patient positioned at 45° to the horizontal. The JVP may be distinguished from the carotid pulse by the following features:
•It may be compressed and obliterated by pressure.
•It rises on compression of the right upper quadrant (hepatojugular reflux).
The height of the JVP is measured as the vertical distance between the manubriosternal angle and the top of the venous pulsation. Elevation is defined as >3cm.
There are several components of the jugular venous pulsation waveform. The a wave is produced by atrial systole. This is followed by the x descent at the end of atrial contraction. The x descent is interrupted by a small, barely perceptible deflection called the c wave. This deflection is caused by the rapid ↑ in right ventricular pressure just before the tricuspid valve closes. A subsequent v wave results from the rise in right atrial pressure as it fills with venous return during ventricular systole and whilst the tricuspid valve remains closed. At the end of ventricular systole, the tricuspid valve opens and the pressure in the right atrium falls, leading to the y descent (see Table 1.11).
Table 1.11 Jugular venous pulse waveforms
| Description | Diagram | Diagnosis | Comment |
| Normal |  |
Normal | |
| ↑ JVP Normal waveform |  |
Right heart failure Fluid overload Pulmonary embolus Cardiac tamponade |
↑ right atrial pressure |
| Absent a wave |  |
Atrial brillation | Poor atrial contraction fails to generate a waves |
| Large a waves |  |
Tricuspid stenosis Right ventricular hypertrophy |
Resistance to right atrial emptying causes ↑ right atrial pressure |
| Large waves |  |
Tricuspid regurgitation | Refluux of blood into the great veins with right ventricular contraction |
| Cannon (a) waves |  |
Complete heart block Ventricular tachycardia |
Right atrium contracts against closed tricuspid valves, creating a cannon wave |
| Rapid y descent |  |
Constrictive pericarditis Cardiac tamponade Tricuspid regurgitation Right heart failure |
A steep y descent is caused by right ventricular diastolic collapse (Freidrich’s sign) |
| Absent pulsation ↑ JVP |  |
Superior vena caval obstruction | No right atrial pressure can be transmitted to the JVP |
Pain located in the renal angle.
•Renal or ureteric obstruction.
•Renal infarction or papillary necrosis.
•IgA nephropathy—pain caused by extension of the renal capsule.
•Shingles at T10–12 (obvious if a rash is seen on examination or suspected if pain is in a dermatomal distribution).
•Infection or bleeding into a cyst in polycystic kidneys.
•Vesico-ureteric reflux—pain occurs when the bladder is full; this worsens at the initiation of micturition and then is rapidly relieved on voiding.
•Loin pain-haematuria syndrome—this is recurrent pain which occurs in young women. Angiography reveals tortuous vessels.
•Creatinine clearance (CrC) (if renal impairment).
•Urine dipstick for protein, blood, nitrites, leucocytes.
•Urine microscopy (for casts).
•Blood cultures (if bacteraemia suspected).
•IVU (e.g. if +ve urine dipstick for haematuria).
•Renal USS (useful for rapid, non-invasive exclusion of obstruction).
•Angiogram (if suspicion of thrombus, embolus, or loin pain-haematuria syndrome).
•Cystoscopy (specialist procedure).
•Renal biopsy (only after specialist advice).
Lymph node enlargement may be localized or generalized (see Table 1.12).
•Local causes in the mouth (pharyngitis, dental abscess).
•Scalp (skin malignancies or disease).
•Nose (nasopharyngeal carcinoma).
•May suggest carcinoma of the stomach.
•Is less often due to malignancy.
•Sometimes drugs may be associated with lymph node enlargement (phenytoin, antithyroid).
Table 1.12 Causes of lymphadenopathy
| Infection | |
| Viral | Infectious hepatitis, EBV syndromes, HIV, rubella, varicella, herpes zoster |
| Bacterial | Streptococcal, staphylococcal, salmonella, brucellosis, Listeria, cat-scratch (Bartonella) |
| Fungal | Histoplasmosis, coccidioidomycosis |
| Chlamydial | |
| Mycobacterial | |
| Parasites | Trypanosomiasis, microfilaria, toxoplasmosis |
| Spirochaetes | Syphilis, yaws, leptospirosis |
| Connective tissue | RA, SLE, dermatomyositis, serum sickness |
| Drugs | e.g. phenytoin |
| Malignancy | |
| Haematological | Hodgkin’s lymphoma, non-Hodgkin’s lymphoma, acute and chronic lymphoid malignancies (chronic lymphocytic/lymphatic leukaema (CLL), acute lymphoblastic leukaemia (ALL)), acute myeloid leukaemia (AML) |
| Non-haematological | Metastases from carcinomas (breast, bowel, lung, prostate, kidney, head and neck) |
| Endocrine | Thyrotoxicosis |
| Miscellaneous | Sarcoidosis, amyloidosis |
•FBC, blood film, LDH (leukaemia, lymphoma, Hodgkin’s).
•Serology/virology/microbiology/other antigen detection tests:
•Viral (EBV, hepatitis, CMV, HIV).
•Bacterial (TB, bacterial endocarditis, syphilis).
•ANA (collagen disorder, systemic lupus).
•USS/CT scan (to assess intra-abdominal, mediastinal/hilar lymphadenopathy).
•LFTs/hepatomegaly (↑ ALP suggests malignant deposits).
•Lymph node biopsy (groin nodes should usually be avoided because commonly enlarged due to skin and infectious disorders).
•BM (may confirm haematological malignancy).
Note: FNA, although easier to perform, may not be diagnostic and lymph node biopsy should be considered for microbiology and histology.
OHCM 10e, p. 35, p. 594.
Although we have provided a large list of possibilities, common sense should be used in determining the cause. For example, an 80-year-old woman with axillary lymphadenopathy is unlikely to have cat-scratch disease! Common things are common.
The so-called vomiting centre is located in the medulla oblongata and is stimulated by the chemoreceptor trigger zone in the fourth ventricle. There are many causes of acute and chronic nausea. These can be divided into GI and non-GI causes.
•Food poisoning (viral, bacterial—common).
•Acute and chronic gastritis (remember H. pylori).
•Pseudo-obstruction of the bowel.
•AXR (erect and supine—beware perforated viscus).
Consider:
•Isotopic gastric emptying studies.
•Oesophageal muscle biopsy (rarely indicated).
•Metabolic disorders, including:
•Ketoacidosis (diabetic, alcoholic).
•Pregnancy. Note: hyperemesis gravidarum may be associated with ↑ free T4 (FT4), ↓ thyroid-stimulating hormone (TSH).
•Many drugs, notably opiates and digoxin toxicity (check serum levels).
•MI (nausea common; exacerbated by opiates).
•Serum drug levels, e.g. digoxin, theophylline.
•Cerebellar lesions (e.g. infarct, haemorrhage, metastases, demyelination).
•MRI if cerebellar lesion suspected.
•Tilt table test ( Tilt table testing, pp. 494–495).
•Audiometry (specialist technique).
OHCM 10e, p. 70. Nystagmus.
The main concern in a patient with neck stiffness is that s/he may have meningitis which may result from infection or may reflect infiltration by a disease such as acute leukaemia.
•Infiltration by malignancy (e.g. acute lymphoblastic leukaemia (ALL), high-grade lymphoma, or sometimes acute myeloid leukaemia (AML)).
•Connective tissue disease, e.g. RhA.
•Xanthochromia if SAH suspected.
•If patient immunocompromised, consider:
•Polymerase chain reaction (PCR) for viruses, e.g. herpes simplex virus (HSV).
•India ink stain for Cryptococcus.
•If considering malignancy, send cerebrospinal fluid (CSF) for cytospin.
OHCM 10e, p. 478.
An involuntary oscillatory or (more commonly) rapid jerking movement of the eyes that is rhythmic and repetitive. It results from acute or chronic lesions of the eight cranial nerves, brainstem, or cerebellum. The ‘slow’ phase is pathological, the rapid, rhythmic jerking phase (used arbitrarily to define the direction of nystagmus) being a corrective response. Nystagmus ‘to the right’ describes the direction of the quick phase. Such ‘sawtooth’ nystagmus may be evident in the horizontal or vertical plane (including ‘downbeat’ nystagmus of foramen magnum lesions) or as oscillations around a central point (e.g. in albinism).
Jerk nystagmus may be graded in severity, depending on whether:
•It occurs only in the direction of directed gaze.
•It occurs when eyes are in the midline, or
•It is present even on looking in a direction contralateral to the rapid movement.
Note: nystagmus (or, more correctly, nystagmoid jerks) may be induced by inappropriate testing, often being present at the extremes of gaze. Do not ask the patient to follow a visual target beyond ~30° of the midline when testing at the bedside.
Greatest when gaze directed towards the side of the destructive lesion.
Greatest away from the side of the lesion.
May be due to labyrinthine and vestibular lesions—occurs in one direction only. If visual fixation is removed, nystagmus becomes worse.
Including brainstem lesions caused by, e.g. tumour, MS; cerebellar lesions or medial longitudinal fasciculus lesions leading to internuclear ophthalmoplegia ( OHCM 10e, Chapter 10) with ataxic nystagmus.
•Positional nystagmus may be investigated by using the Hallpike manoeuvre ( OHCM 10e, Chapter 10). Abrupt alteration of the spatial position of the head (from supine, with the head below the bed, rapidly to a sitting position) will induce nystagmus. This will demonstrate benign positional vertigo (common), vestibular disorders, or brainstem lesions.
•Audiometry (specialized investigation).
•Auditory and visual evoked potentials (VEPs) may be pathologically reduced in MS. Examination of CSF may reveal oligoclonal bands (OCBs).
•MRI to include the brainstem. (Upbeat nystagmus will suggest a midbrain lesion and downbeat nystagmus will suggest a foramen magnum lesion.) MRI is superior to CT for demonstrating cerebellopontine angle lesions. Gadolinium enhancement is used to investigate acoustic neuromas.
•Ototoxicity can be caused by some drugs such as gentamicin and phenytoin. Acute poisoning with alcohol or barbiturates may cause transient nystagmus. Chronic alcoholism can lead to permanent cerebellar damage. Excessive doses of anticonvulsant drugs, e.g. phenytoin, are a common cause—measure serum concentrations of the drug.
OHCM 10e, p. 70.
The World Health Organization (WHO) defines obesity as a body mass index (BMI) >30kg/m2 (Table 1.13).
| BMI (kg/m2) | |||
| Underweight | <18.5 | ||
| Normal | 18.5–24.9 | ||
| Overweight | >25.0–29.9 | ||
| Obesity | Class | I | 30.0–34.9 |
| II | 35.0–39.3 | ||
| III | >40 | ||
Note: central (abdominal) fat distribution—commoner in men—is associated with greater health risks. The waist-to-hip ratio, or simply the waist girth, can be used to identify levels at which long-term health risks warrant intervention (see Box 1.2):
The great majority of obese subjects have no identifiable metabolic or hormonal defects and detailed investigation is rarely indicated. A chronic imbalance of the equation with energy intake (dietary calories) on the one hand and expenditure (resting metabolic rate + physical activity) on the other is thought to be responsible. Reduced levels of habitual activity allied to an abundance of energy-dense foods appears to account for the current pandemic of obesity and related disorders:
•Type 2 diabetes mellitus (DM).
•Impaired physical functioning.
•Certain cancers, e.g. bowel, breast.
Weight gain tends to occur in middle age; ♀ are more at risk than ♂. Socio-economic factors are also important.
•For example, Prader–Willi syndrome, Laurence–Moon (Biedl–Bardet) syndrome.
•For example, mutations of leptin (provides feedback from adipocytes to the hypothalamus about body fat stores) or its hypothalamic receptor (very rare).
•Lesions which damage the ventromedial nucleus (the ‘satiety’ area) may lead to obesity.
•Tumours—craniopharyngiomas and astrocytomas.
•Inflammation—such as TB and meningitis.
•Infiltration—histiocytosis and sarcoidosis.
•With ‘buffalo’ hump and central obesity.
•Disputed, unless severe myxoedema, but hyperthyroidism is associated with unphysiological weight loss.
•Often associated with moderate weight gain; rare.
•For example, severe mental retardation or physical disability.
•Waist circumference (maximal).
•Venous plasma glucose (or oral glucose tolerance test (OGTT)).
•LFTs (↑ non-alcoholic steatohepatitis in obese subjects).
•Fasting lipid profile ( Investigation of hyperlipidaemia, pp. 212–215).
These may occasionally be indicated if clinical features give cause for suspicion of an organic cause:
•Cranial CT or MRI of the pituitary and hypothalamus.
•Investigations for Cushing’s syndrome ( Obesity/hypercortisolism, pp. 142–146).
•Genetic testing (seek advice of the genetics service).
Lean MEJ, Han TS, Seidell JC. Impairment of health and quality of life in men and women with a larger waist. Lancet 1998; 351: 853–6.
Acute renal failure (ARF)—distinguish pre-renal from renal and post-renal causes.
•Hypovolaemia, e.g. GI haemorrhage, diuretics.
•ATN (e.g. 2° to nephrotoxins such as aminoglycosides and radiological contrast media).
•Bladder, prostate, and cervical tumours.
•Blocked urinary catheter (common!).
•Urinary Na+ excretion (<20 pre-renal, >40 ATN).
•Urine osmolality (>500mOsmol/L = pre-renal, <350mOsmol/L = ATN).
•Urine dipstick for blood, protein, nitrites, and leucocytes.
•Renal USS (± biopsy in selected cases).
•Investigation of renal stones:
•24h excretion of oxalate, calcium, creatinine.
OHCM 10e, p. 81, p. 293, p. 576.
Patients generally use the term palpitations to refer to an awareness of an abnormally fast, forceful, or irregular heart rhythm. Palpitations can be physiological, as in the fast and/or forceful heart rhythm felt with exercise or anxiety, or pathological.
•Sinus tachycardia ( Causes of sinus tachycardia, pp. 110–111).
The key to diagnosis is to record a 12-lead ECG, whilst palpitations are present. Although simple in principle, infrequent paroxysmal palpitations can make this very challenging. A 12-lead ECG is mandatory and may provide an immediate diagnosis if the patient is experiencing palpitations as it is performed. As well as assessing the heart rhythm, it is important to inspect the 12-lead ECG for evidence of abnormal AV conduction (short PR interval, pre-excitation) or abnormal repolarization (long QT interval). Check also for evidence of an underlying structural heart disease, e.g. pathological Q waves indicative of a previous MI.
If the patient’s palpitations are paroxysmal, a number of ambulatory ECG monitoring techniques are available:
•24h ambulatory ECG monitoring.
The choice of technique should be guided by how frequently the palpitations occur.
Additional investigations depend upon the nature of the suspected arrhythmia. It is generally prudent to check:
One may also consider:
•CXR (to assess heart size and valvular calcification).
•Echocardiogram (if structural heart disease suspected).
•Exercise treadmill test (if IHD suspected, or to provoke arrhythmias thought to be exercise-related).
OHCM 10e, pp. 36–7, p. 94.
Pancytopenia (↓ Hb, ↓ WBC, and ↓ platelets) may occur because of bone marrow failure (hypoplasia) or inefficient production (myelodysplastic syndrome (MDS)) or peripheral destruction of cells or sequestration (splenomegaly/hypersplenism).
►► Pancytopenia usually means something is seriously wrong.
Bone marrow assessment is necessary to establish whether the marrow is hypocellular or hypercellular in the face of peripheral blood pancytopenia. If hypercellular, the cause may be an infiltrative process (due to leukaemia/carcinoma, granulomatous disease, fibrosis–myelofibrosis, osteosclerotic–osteopetrosis, increased macrophages–haemophagocytic syndromes due to viral infections). Causes of hypoplastic bone marrow failure may be hereditary (e.g. Fanconi’s anaemia) or acquired (e.g. drugs). Critically ill patients may develop pancytopenia for multiple reasons (sepsis, haemorrhage, DIC).
•FBC, film (aplastic anaemia usually presents with ↓ lymphocyte count, but minor morphological changes).
•Reticulocytes (↓ if production failure).
•Serum vitamin B12, folate (megaloblastic anaemia can be associated with pancytopenia).
•Serology for EBV, hepatitis A, B, and C, HIV (associated with aplastic anaemia).
•Serology for parvovirus infection (if pure red cell aplasia, also consider lymphoma, thymoma).
•Neutrophil alkaline phosphatase (NAP) score (↑ in aplastic anaemia).
•Check for lymphadenopathy, hepatomegaly, and splenomegaly.
•CXR (bronchial carcinoma, sarcoid, TB, lymphoma).
•USS/CT to assess lymphadenopathy/splenomegaly (pancytopenia may be due to hypersplenism and portal hypertension).
•Ham’s test for paroxysmal nocturnal haemoglobinuria (PNH) or cell marker analysis of CD55 and CD59.
•Bone marrow (BM) aspirate and cytogenetics (myelodysplasia is a clonal disorder).
OHCM 10e, p. 364.
This may be described by the patient as an abnormal sensation of aching, pricking, tickling, or tingling commonly in the extremities or face. Often described as feeling like ‘pins and needles’.
The selection of investigations will be determined largely by the history (transient? chronic?), the surface anatomical site of the abnormal sensation, and associated symptoms or precipitating factors (e.g. clear history of hyperventilation).
The common causes include the numbness or tingling associated with pressure on the peripheral nerves, such as caused by sleeping awkwardly on an arm (‘Saturday night palsy’ of the radial nerve), or chronic or recurrent pressure, e.g. on the ulnar nerve at the elbow.
If paraesthesiae is persistent, consider the following conditions, depending on the distribution of the symptoms:
•Carpal tunnel syndrome (with radiation proximally along the forearm; worse at night).
•Peripheral neuropathy (DM, alcohol, drug-induced; OHCM 10e, Chapter 10).
•Sciatica (reduced straight leg raising).
•Meralgia paraesthetica (lateral cutaneous nerve of the thigh).
•Lateral popliteal palsy (common peroneal nerve).
•Vitamin B1 or B12 deficiencies.
•Isoniazid (pyridoxine-dependent).
Acute hypocalcaemia causes a characteristic perioral paraesthesiae and can be due to many causes, including 1° and 2° hypoparathyroidism and alkalosis.
•ABGs (acute or chronic acid–base disturbances leading to alterations in ionized Ca2+).
•Serum Ca2+ (not all laboratories measure ionized Ca2+).
•Serum parathyroid hormone (PTH) (uncuffed sample).
•Vitamin B12 (and other investigations in suspected chronic peripheral neuropathy).
Identify the cause:
•Chronic GI loss (fistula, excessive diarrhoea, bowel obstruction).
•Chronic renal loss (diuretic drugs, intrinsic renal disease).
•DKA—total body Mg2+ may be low, but this very rarely causes symptoms.
•USS abdomen/renal tract and subsequent GI investigations.
•Nerve conduction studies (NCS).
•IGF-1, growth hormone (GH) response during 75g-OGTT (if features of acromegaly present; Acromegaly (growth hormone excess), p. 132).
The patient will complain of numbness in hands and feet that progresses proximally in a distribution classically termed ‘glove and stocking’. Different aetiologies lead to a motor, sensory, or mixed sensorimotor picture.
•Vitamin B12 deficiency (may occur in the absence of anaemia).
•Vitamin B deficiency (e.g. alcoholics).
•Drugs, e.g. isoniazid, vinca alkaloids, cisplatin, dapsone, gold, metronidazole.
•Paraproteinaemias (e.g. monoclonal gammopathy of undetermined significance (MGUS) or myeloma).
•Collagen vascular diseases, e.g. rheumatoid, SLE, polyarteritis nodosa (PAN).
•Endocrine disease, e.g. myxoedema, acromegaly.
•Infections, e.g. tetanus, leprosy, diphtheria, botulism.
•Hereditary, e.g. Charcot–Marie–Tooth disease.
•Acute intermittent porphyria.
•Toxins, e.g. lead (predominantly motor), arsenic (mixed sensory and motor), mercury (sensory), and thallium (mixed sensory and motor).
•Chronic inflammatory demyelinating polyneuropathy.
•Hereditary motor and sensory neuropathy types I or II.
•NCS to confirm the diagnosis.
•In order to determine the underlying cause.
•Discuss with neurology staff.
OHCM 10e, p. 447.
Swelling of the legs, or peripheral oedema, is a common presenting symptom, which occurs when excess tissue fluid is redistributed by gravity. Severe oedema is usually pathological and swelling of the ankles may progress to ascites and even pleural and pericardial effusion.
•Cardiac failure: congestive heart failure, dilated cardiomyopathy, constrictive pericarditis, cor pulmonale.
•Hypoalbuminaemia: liver failure (hepatic cirrhosis), renal failure (nephrotic syndrome), protein-losing enteropathy, malnutrition (malabsorption or starvation).
•Immobility: common in old age, long-distance travel.
•DVT and/or subsequent venous insufficiency.
•Drugs: calcium channel blockers (nifedipine, amlodipine), NSAIDs.
•Malignancy: compression of deep vein, enlarged lymph nodes or lymphatics.
•Lymphatic obstruction: congenital, infiltrative (filariasis).
•Following removal of lower limb plaster cast.
•Relative immobility: long-distance travel.
These should be guided by the history and examination.
•Doppler studies of leg veins/contrast venography (according to local availability).
•Malignancy screen for common cancers.
•Urine dipstick for proteinuria.
•24h urinary protein excretion or urine protein/creatinine ratio.
Spontaneous bleeding in the absence of trauma is uncommon with platelet counts >20 × 109/L. However, bleeding is much more likely if thrombocytopenia is not immune in origin (e.g. aplastic anaemia, acute leukaemia, drug-induced, chemotherapy, myelodysplasia).
Thrombocytopenia may be inherited or acquired (e.g. DIC). As for pancytopenia, these may be classified as due to a failure of production, or ↑ consumption in the peripheries (DIC, ITP), or abnormal tissue distribution (splenomegaly).
ITP may be 1° or 2° (e.g. lymphoma, lupus, HIV).
Drugs (e.g. heparin) and blood transfusion (post-transfusion purpura) may cause severe thrombocytopenia.
•Inherited causes may be associated with giant platelets.
•Morphological abnormalities may suggest MDS.
•Red cell fragments suggest thrombotic microangiopathies, e.g. TTP.
•LDH (↑ in thrombotic thrombocytopenic purpura (TTP) and lymphoproliferative disorders).
•Serum vitamin B12, folate (megaloblastic anaemia can be associated with ↓ platelets).
•ANA, autoimmune screen, Igs (lupus, hyperthyroidism).
•Virology (HIV, EBV, viral hepatitis, CMV).
•Lupus anticoagulant, cardiolipin antibodies (antiphospholipid antibody syndromes).
•Platelet serology for drug- or transfusion-related causes.
•BM assessment to establish whether thrombocytopenia is due to a BM production problem or due to peripheral consumption (discuss with the haematology team; depending on the degree of thrombocytopenia, other haematological findings, and the age of the patient, a marrow may not be required).
Thrombocytopenia due to HIV infection must be considered, especially in all younger adults. Not worth checking platelet-associated IgG or IgM since these are elevated in thrombocytopenia caused by immune and non-immune mechanisms, so they add no useful information.
A plethoric appearance is typically seen in association with polycythaemia but may also be mistaken for a normal outdoors complexion or cyanosis. Patients with haematocrits above the normal reference range may or may not have an ↑ red cell mass (real or relative polycythaemia, respectively) (see Table 1.14).
•FBC, film (repeat FBC as sampling errors can falsely cause elevations of Hb; polycythaemia rubra vera (PRV) may be associated with neutrophilia, basophilia, or ↑ platelets).
•Measurement of red cell mass may be necessary to confirm true polycythaemia.
•Investigations are then aimed at establishing whether real polycythaemia, if documented, is due to a 1° BM abnormality (PRV) or a 2° disorder (e.g. respiratory disease).
•NAP score (may be raised in PRV). Seldom used now ( Neutrophil alkaline phosphatase, pp. 300–301).
•Vitamin B12 and urate (may be ↑ in PRV).
•ESR/CRP (acute phase reactants may suggest 2° causes).
•Blood gas analysis, O2 saturation, COHb levels (2° polycythaemia due to respiratory disease, smoking).
•Biochemistry (urea, creatinine; renal disease).
•USS abdomen (renal cysts, liver disease, uterine fibroids, and other malignancies may ‘inappropriately’ secrete Epo; also check for splenomegaly in PRV).
•Sleep studies (obstructive sleep apnoea (OSA), supine desaturation).
•O2 dissociation studies (polycythaemia due to abnormal, high-affinity Hb variant).
•BM aspirate and chromosomal studies/cytogenetics (PRV is a clonal disorder).
| ↑ red cell count | >6.0 × 1012/L | ♂ |
| >5.5 × 1012/L | ♀ | |
| ↑ PCV | >50% | ♂ |
| >45% | ♀ | |
| ↑ Hb | >18.0g/dL | ♂ |
| >16.0g/dL | ♀ |
Polyuria (the passage of an excessive volume of urine, which may be associated with frequency of micturition and nocturia) must be differentiated from urinary symptoms associated with prostatic disease and urinary infections. The latter are also characterized by frequency, urgency, and nocturia, but usually small amounts of urine are passed at each void.
•Cranial diabetes insipidus (DI) ( OHCM 10e, Chapter 5):
•Familial (autosomal dominant).
•2° to posterior pituitary or hypothalamic disease, e.g. surgery, tumours, especially metastases, neurosarcoidosis.
•Familial (X-linked recessive).
•Chronic intrinsic renal disease, e.g. pyelonephritis.
•Lithium, colchicine, amphotericin.
•CXR (? mediastinal lymphadenopathy in TB, sarcoidosis).
If no obvious cause found, consider detailed investigations for cranial or nephrogenic DI ( Polydipsia and polyuria: diabetes insipidus, pp. 134–136).
OHCM 10e, p. 81, p. 293.
Implies generalized itching and may be associated with many disorders, including:
•Malignant disease, e.g. lymphoma.
•Aim to exclude the above diseases.
•Biochemistry screen, including LFTs and renal function.
OHCM 10e, p. 28, p. 535.
Ptosis can be unilateral and bilateral. Bilateral ptosis can be more difficult to recognize. Ptosis must be considered in association with other signs and symptoms. Ptosis may be long-standing, of recent onset, progressive, or intermittent, especially at the end of the day—myasthenia gravis (MG).
•Oculomotor (III) nerve palsy—levator palpebrae. ‘Down and out’ pupil with loss of light reflex (e.g. DM, SOL, demyelination).
•Aneurysm (basilar or posterior communicating arteries).
•Horner’s syndrome—superior tarsal muscle (brainstem infarction, syringobulbia, SOL, MS).
•Carotid artery aneurysm or dissection.
•Cerebral angiography (aneurysm).
•GBS (Miller–Fisher syndrome).
•Neurosyphilis (bilateral; Argyll Robertson pupils).
•Serum anti-acetylcholine receptor antibodies (AChRAb) (MG).
•IV edrophonium (Tensilon®) test (MG; Edrophonium (Tensilon®) test, p. 631).
OHCM 10e, p. 73.
Occurs when a thrombus in systemic veins or the right side of the heart embolizes into the pulmonary arterial system. Impaired gas exchange occurs because of a mismatch between ventilation and perfusion.
•FBC (may be leucocytosis, neutrophilia most likely).
•Plasma D-dimers: ↑ with fresh thrombus.
•ABGs: hypoxia and hypocapnia.
•ECG: look for AF. Usually sinus tachycardia, may be evidence of right ventricular ‘strain’. In massive PE, there may be S1Q3T3.
•CXR: often normal but may show signs of pulmonary infarction or effusion.
•V/Q scan (may be useful for detection of areas of the lungs that are being ventilated but not perfused).
•Multislice CT scan: useful for detection of medium-sized PEs but does not exclude small PEs.
OHCM 10e, p. 98, pp. 190–1, p. 351, p. 818.
Rate and heart rhythm can be determined from palpation of the radial pulse. The arm should then be elevated to check for a collapsing pulse. Pulse volume and additional characteristics are assessed from palpation of the brachial or carotid pulse (see Table 1.15).
| Description | Diagram | Diagnosis | Comment |
| Normal |  |
Normal | Normal volume and character |
| Slow rising |  |
Aortic stenosis | Reduced volume pulse with delayed peak pulsation |
| Collapsing |  |
Aortic regurgitation High cardiac output: Patent ductus arteriosus |
↑volume pulse with rapid rise and fall |
| Pulsus alternans |  |
Severe heart failure | Pulse is regular, but alternate beats are weak and strong |
| Pulsus bisferiens |  |
Hypertrophic cardiomyopathy Mixed aortic valve disease |
Palpable doucle pulse |
| Pulsus bigminus |  |
Bigeminy | An sctopic beat occurs after every normal sinus beat |
| Pulsus paradoxus |  |
Severe asthma Cardiac tamponade Constrictive pericarditis |
There is exaggeration of the usual fall in blood pressure during inspiration >10mmHg) |
Implies bleeding of varying degrees into the skin. Includes petechial haemorrhages (pinpoint) and ecchymoses (bruises). There are many causes, including disorders of platelets and blood vessels.
•Congenital, e.g. Osler–Weber–Rendu syndrome (= HHT), connective tissue (Ehlers–Danlos), osteogenesis imperfecta, Marfan’s.
•Severe infection (septic, meningococcal, measles, typhoid).
•Allergic, e.g. Henoch–Schönlein purpura.
•Miscellaneous, e.g. senile purpura, scurvy, factitious.
•Thrombocytopenia—any cause (immune, marrow infiltration, deficiency of vitamin B12 or folate, myelofibrosis, DIC, TTP/HUS).
•FBC (looking for platelet abnormalities and presence of leukaemic cells or other signs of infiltration).
•Coagulation screen (looking for clotting factor deficiencies, DIC, etc.).
•Bleeding time using template device (previously used as a test of platelet function, but largely abandoned now because of poor reproducibility).
OHCM 10e, p. 311, p. 315, p. 556, p. 702.
The pathogenesis (and hence causes) of thrombosis reflect abnormalities in the dynamics of the circulation, the blood vessel walls, or the blood constituents (Virchow’s triad). A hypercoagulable or thrombophilic risk factor is an inherited or acquired disorder of the haemostatic mechanisms, which may be associated with an ↑ likelihood of a thrombotic event (venous or arterial) or recurrent thrombosis. This concept of risk factors for thrombosis is analogous to that for heart disease, and similarly for most patients multiple causal factors operate (see Table 1.16).
Hereditary thrombotic disease may be suggested by a positive family history but should be tested for if the venous thrombotic events occur in the absence of acquired causes, at a younger age, at unusual sites (e.g. mesenteric), or as recurrent thromboses.
•Deficiency of factors, e.g. protein C, protein S, or antithrombin.
•↑ procoagulant (PT, VIII); others (homocysteinuria).
•Consider occult malignancy (PSA in ♂, pelvic USS in ♀).
•FBC (myeloproliferative disorder, PNH).
•Biochemistry (cardiac disease, liver disease, nephrotic syndrome).
•ESR/CRP (ulcerative colitis).
•ANA/lupus anticoagulant/cardiolipin antibodies (antiphospholipid antibody syndromes, lupus).
Table 1.16 Thromboembolic risk factors
| Acquired | |
| Cardiac disease | MI, AF, cardiomyopathy, CCF |
| Post-op | Especially abdominal, pelvic, or orthopaedic surgery |
| Pregnancy | |
| Malignancy | Any |
| Polycythaemia | |
| Immobilization | Prolonged |
| Fractures | Especially hip and pelvis |
| Obesity | |
| Varicose veins | |
| Drugs | e.g. oestrogen-containing oral contraceptive |
| Inherited | |
Thrombophilia testing may be complicated if the patient is on warfarin/heparin; discuss with the lab before sending samples.
OHCM 10e, p. 375.
•Flame-shaped (e.g. hypertension).
•Dot and blot (e.g. DM, vein occlusion, or haematological disease).
•Pre-retinal haemorrhage; suggests new vessel formation, e.g. DM or post-retinal vascular occlusion.
•Haemoglobinopathy, e.g. HbSC.
•ESR or plasma viscosity (hyperviscosity syndromes such as myeloma or Waldenström’s macroglobulinaemia).
•Serum Igs and protein electrophoresis.
Fever is due to a resetting of the anterior hypothalamic thermostat, is mediated by prostaglandins (hence aspirin is beneficial), and is most commonly caused by infection. Large variations in temperature may be accompanied by sweats, chills, and rigors. An undulant fever may suggest Hodgkin’s disease or brucellosis. ‘B’ symptoms define fever (>38°C), night sweats (drenching), and weight loss (>10%) and suggest a diagnosis of lymphoma. (Fever is unusual in chronic lymphocytic/lymphatic leukaemia (CLL) in the absence of infection.)
•FBC, film (Hodgkin’s disease is associated with anaemia, neutrophilia, eosinophilia, and lymphopenia).
•LDH (↑ in lymphoma, non-specific test).
•Microbiological tests, blood/urine cultures (also consider pyogenic infection and abscesses in more unusual sites, e.g. renal).
•Antigen detection tests for specific pathogens.
•ANA (connective tissue disease).
•BM aspirate/trephine may be necessary as part of leukaemia and lymphoma work-up.
Not all fever is caused by infection.
OHCM 10e, p. 29.
The assessment of short stature can be a long and difficult process. Constitutional short stature is the commonest cause. Psychosocial disease must be considered, but extensive investigation is required to rule out organic disease. If no cause is found, a period of observation may make the underlying cause apparent. Specialist evaluation should be undertaken in all cases.
•Hypothyroidism (readily treatable).
•Cushing’s syndrome (rare in children). (Note: corticosteroid treatment for chronic asthma.)
•Type 1 DM—Mauriac’s syndrome, now rare.
•Constitutional short stature (short parents).
•Intrauterine growth retardation.
•Mucopolysaccharidoses (rare).
•Turner’s syndrome (46 XO and variants).
•Noonan’s syndrome (46 XY, but features of Turner’s in a ♂).
•Congenital cardiac disease, e.g. left-to-right shunt, cardiac failure.
•Other causes of malabsorption, e.g. coeliac disease, Crohn’s colitis.
•Haematological disease, e.g. sickle-cell disease.
•Current height + weight (compare to any previous data available; plot on growth charts).
•Growth velocity—normal if prior problem, e.g. intrauterine growth retardation.
•Physical stigmata of physical disease. Note: central nervous system (CNS) examination mandatory.
•Serum albumin (? nutritional status).
•Serum PO43− (reduced in rickets).
•X-ray pelvis (Looser’s zones), epiphyses (wide, irregular in rickets), ribs (multiple fractures).
•Serum antigliadin and antiendomysial antibodies (coeliac).
•Testosterone or oestradiol, LH, FSH, PRL (if puberty delayed—panhypopituitarism?).
•X-ray of the wrist for bone age. If delayed, measure serum IGF-1 (if IGF-1 normal, then GH deficiency unlikely; if IGF-1 low, consider nutritional and general health status before diagnosing GH deficiency—stimulation tests required; Endocrinology and metabolism, Short stature, p. 178). If normal—constitutional short stature.
•Karyotype (Turner’s and Noonan’s syndromes).
•24h urinary free cortisol (as screen for Cushing’s syndrome; Obesity/hypercortisolism, pp. 142–146).
•CT or MRI of the pituitary (if GH deficiency or panhypopituitarism).
Skin pigmentation can be due to ↑ melanin deposition, e.g. racial differences in skin pigmentation, or due to ↑ melanin deposition seen in sun exposure. Lentigines and freckles are common. Haemosiderin and other substances can ↑ skin pigmentation. ↑ pigmentation can be seen in various dermatological conditions; chronic inflammation and fungal infection can result in ↑ skin pigmentation. Lichen planus and fixed drug eruptions are associated with ↑ pigmentation.
•Addison’s disease (palmar creases, buccal pigmentation, recent scars).
•Porphyria cutanea tarda (especially exposed areas—dorsum of the hands).
•Chronic malabsorption syndromes.
•Drugs, e.g. amiodarone, psoralens, mepacrine, minocycline, chloroquine.
•Haemochromatosis (so-called ‘bronzed diabetes’).
•PBC (deep green-yellow jaundice, chronic pruritus).
•Ectopic ACTH syndrome, e.g. bronchial carcinoma.
•Nelson’s syndrome (excessive adrenocorticotrophic hormone (ACTH) secretion from pituitary basophil adenoma in Cushing’s disease treated by bilateral adrenalectomy).
•Carotenaemia (orange discoloration does not involve the sclerae; Jaundice, p. 66).
•Chloasma (pregnancy, oestrogen-containing OCP).
•Acanthosis nigricans—most often a marker of insulin resistance in obese patients with type 2 DM. Rarely in association with underlying carcinoma.
•Peutz–Jeghers syndrome (fingers, lips, in association with small intestine polyposis).
•Localized acquired depigmentation (vitiligo) is a marker of autoimmune disease.
•Oculocutaneous albinism (autosomal recessive).
•Chronic hypopituitarism ( Hypothalamus/pituitary function, pp. 128–130).
•Antigliadin and antiendomysial antibodies.
•Short tetracosactide (Synacthen®) test (if 1° hypoadrenalism suspected; Short Synacthen® test, p. 225).
•LFTs, serum albumin, and PT (INR).
•Fe/TIBC/ferritin + genetic markers for haemochromatosis + liver biopsy.
•Autoimmune profile ( Chapter 4).
•Testosterone (or oestradiol) + LH, FSH.
•Antimitochondrial antibodies, liver biopsy (PBC).
•Investigations for Cushing’s syndrome ( Obesity/hypercortisolism, pp. 142–146).
•Investigations for causes of chronic renal failure.
A palpable spleen is at least twice its normal size, when its length is >14cm. Enlargement may represent changes in the white pulp (lymphoid tissue expansion, inflammation), red pulp (blood congestion, extramedullary haemopoiesis), or occasionally supporting structures (cysts).
•Myeloproliferative disorders.
•Infections, e.g. infective endocarditis, typhoid, TB, brucellosis, viral (EBV, viral hepatitis).
•Storage disorders (e.g. Gaucher’s).
If foreign residence, consider infectious causes (malaria, leishmaniasis, schistosomiasis) and haemoglobinopathies (HbC, HbE, thalassaemia).
•Chronic myeloid leukaemia (CML).
•Thorough history and physical examination.
•FBC, blood film, LDH (leukaemia, lymphoma, pernicious anaemia).
•Reticulocytes, bilirubin (if ↑, suggests haemolysis).
•Virology/microbiology (sepsis, bacterial endocarditis, EBV, CMV).
•Serum protein electrophoresis (myeloma, amyloid).
•Autoantibody screen, ANA (collagen disease, lupus, RhA).
•LFTs (splenomegaly may be associated with hepatomegaly, or due to portal hypertension).
•Peripheral blood cell markers (immunophenotype—may show leukaemia or lymphoma).
•BM aspirate/trephine/cell markers/cytogenetics.
•Leucocyte glucocerebrosidase activity (Gaucher’s disease).
•USS to assess liver texture, splenomegaly, and lymphadenopathy.
OHCM 10e, p. 63, p. 373, p. 604.
Implies that the patient is passing pale, bulky stools that are offensive (contain fat and tend to float) and are difficult to flush away.
•Any disorder that prevents absorption of micellar fat from the small bowel.
•Pancreatic disease, including cystic fibrosis.
•Bile salt deconjugation by bacteria.
•Vitamin B12 and serum (or red cell) folate.
•Jejunal biopsy (? villus atrophy).
•Bacterial overgrowth (14C glycocholate breath test).
•Stool culture (e.g. Giardia).
OHCM 10e, p. 59.
Stridor denotes a harsh respiratory added sound during inspiration. It may be a high-pitched musical sound similar to wheeze but arising from constriction of the larynx or trachea. Stridor may be aggravated by coughing.
►► Progressive breathlessness is accompanied by indrawing of intercostal spaces and cyanosis indicates severe laryngeal obstruction with risk of sudden death.
Because of the smaller size of the larynx and trachea in children, stridor may occur in a variety of conditions:
•Postural stridor (laryngomalacia).
•Allergy, e.g. nut allergy, insect stings—common. Note: emergency treatment with IM or subcutaneous (SC) adrenaline (epinephrine)—self-administered or by parent, and parenteral hydrocortisone.
•Croup (acute laryngitis—often coryza).
•Inhaled foreign body, e.g. peanut (common—inhalation further down the respiratory tract, usually into the right main bronchus, may produce localized wheeze or distal collapse; Patterns of lobar collapse, p. 780).
•Pulse oximetry (non-invasive measurement of partial pressure of oxygen (PO2)).
•Plain lateral X-ray of the neck (for radio-opaque foreign body).
•Infection, especially Haemophilus influenzae.
•Inflammatory or allergic laryngeal oedema, e.g. penicillin allergy (see above); may be accompanied by anaphylactic shock.
•Pharyngeal pouch (may be recurrent lower respiratory tract infection).
•Inhaled vomitus or blood in an unconscious patient.
•Tetany (due to low serum Ca2+ or alkalosis; OHCM 10e, Chapter 14).
•Large multinodular goitre, carcinoma, or lymphoma of the thyroid (uncommon).
•Bronchogenic tumour with bilateral cord paralysis (subcarinal and paratracheal gland involvement. Note: ‘bovine’ cough of right recurrent laryngeal nerve palsy).
•Shy–Drager syndrome (of autonomic neuropathy).
•Barium swallow (pharyngeal pouch).
OHCM 10e, p. 48.
Bleeding problems present a considerable challenge. Patients may pre-sent with simple easy bruising—a common problem—or catastrophic post-traumatic bleeding. The best predictors of bleeding risk are found in taking an accurate history, focusing on past haemostatic challenges (e.g. tonsillectomy, teeth extraction, menses—especially at time of menarche) and current drug history (e.g. aspirin). The history may also help delineate the type of defect. Platelet bleeding (e.g. thrombocytopenia) starts at the time of the (even minor) haemostatic insult but, if controlled by local pressure, tends not to recur. Bleeding due to coagulation factor deficiency tends to be associated with internal/deep muscle haematomas as the bleeding typically occurs in a delayed fashion after initial trauma and then persists.
Inappropriate bleeding or bruising may be due to a local factor or an underlying systemic haemostatic abnormality.
► Acquired causes of bleeding are much commoner than inherited causes.
History and presenting complaint. Is this an isolated symptom? What type of bleeding does the patient have, e.g. mucocutaneous, easy bruising, spontaneous, post-traumatic. Duration and time of onset—? recent or present in childhood. Menstrual and obstetrical history are important.
Do the patient’s symptoms suggest a systemic disorder, bone marrow failure, infection, liver disease, or renal disease?
Previous episodes of bleeding, recurrent—? ITP, congenital disorder. Exposure to trauma, surgery, dental extraction, or pregnancies.
First-degree relatives. Pattern of inheritance (e.g. autosomal, sex-linked). If family history is negative, this could be a new mutation (one-third of new haemophilia is due to new mutations).
All drugs cause some side effects in some patients. Bleeding may result from thrombocytopenia and platelet dysfunction. Do not forget to ask about aspirin and warfarin.
Is there any evidence of septicaemia, anaemia, lymphadenopathy ± hepatosplenomegaly?
Check the palate and fundi. Could this be self-inflicted? Check size—petechiae (pinhead); purpura (larger ≤1cm); bruises (ecchymoses; ≥1cm).
Swelling or other signs of chronic arthritis.
Purpura—allergic, Henoch–Schönlein, senile, steroid-related, hypergammaglobulinaemic, HHT—capillary dilatations (blanches on pressure), vasculitic lesions, autoimmune disorders, hypersensitivity reactions.
•FBC, film, platelet count, biochemistry screen, ESR, coagulation screen.
•Special tests, e.g. BM for 1° haematological disorders; radiology, USS.
A stroke denotes an acute neurological deficit. Strokes may vary in presentation, e.g. rapidly resolving neurological deficit to a severe permanent or progressive neurological defect (e.g. multi-infarct disease). Neurological deficits persisting >24h are termed ‘completed stroke’ (cf. TIA). With suspected stroke, a full history and general physical examination are mandatory. Risk factors for cerebrovascular disease should be sought, including a history of hypertension (common—major risk factor), DM (common—major risk factor), and dyslipidaemia. Ask about recent falls or trauma. Hemiparesis can occur as a post-ictal phenomenon or a result of migraine or hypoglycaemia (see below). Hysterical or functional paralysis is also seen but should not be confidently assumed at presentation. Neuroanatomical localization of the deficit and the nature of the lesion(s) require appropriate imaging. Note: the post-ictal state may be associated with temporary (<24h) limb paresis (Todd’s paralysis) in focal epilepsy (suggests structural lesion—cranial imaging is mandatory).
•FBC (polycythaemia, anaemia).
•Protein electrophoresis (if hyperviscosity syndrome suspected, e.g. ↑↑ ESR).
•ECG (AF, IHD—statins reduce the risk of stroke in patients with previous MI).
•CXR (cerebral metastases from bronchogenic carcinoma?).
•Venous plasma glucose. Note: severe hypoglycaemia, e.g. insulin-induced or 2° to sulfonylureas, may mimic acute stroke. Always check the capillary fingerprick glucose concentration to exclude this possibility—even if there is no history of DM. Take a venous sample in a fluoride–oxalate tube (+ serum for insulin concentration) if hypoglycaemia confirmed. ( Diabetes mellitus, pp. 194–199 for further details of investigation and treatment.) Hyperosmolar non-ketotic diabetic coma may also be misdiagnosed as stroke (plasma glucose usually >50mmol/L with pre-renal uraemia).
•Thrombophilia screen (if indicated by clinical or haematological features).
•Lipid profile (not an immediate investigation; 2° prevention—see above).
•Blood cultures (if subacute bacterial endocarditis (SBE) or other sepsis suspected. Note: cerebral abscess).
•Cranial CT scan (± IV contrast).
•Echocardiogram (if mural thrombus, endocarditis suspected).
•Carotid Doppler studies—may not be indicated if surgical intervention (endarterectomy) is unlikely because of poor prognosis, e.g. dense hemiplegia or coma.
•1° or 2° brain tumour (may present as acute stroke—search for 1°).
•Cerebral abscess (usually clear evidence of sepsis).
•Cerebral lupus (ESR, autoantibodies).
OHCM 10e, p. 159, pp. 470–5, p. 746.
Fairly non-specific symptom, but one which may indicate serious underlying disease.
•Lymphoproliferative disease, e.g. lymphomas.
•Neurological disease, e.g. lesions of the sympathetic nervous system, cortex, basal ganglia, or spinal cord.
•Biochemistry screen, including LFTs.
•Further investigations, depending on results of above.
Tachycardia is arbitrarily defined as a heart rate above 100 beats per minute. It is a normal physiological response to exercise and to emotional stress but can also herald a cardiac rhythm disorder. One should always begin by assessing the nature of the tachycardia and identifying any underlying cause or contributing factor.
Assessment begins with a 12-lead ECG, performed whilst the patient is tachycardic. This will enable the immediate identification of the heart rhythm. One must then differentiate between sinus tachycardia (which may or may not have a pathological cause) and tachycardias due to other (abnormal) cardiac rhythms.
•Sympathetic stimulation, e.g. anxiety, pain, fear, fever, exercise.
•Drugs, e.g. adrenaline, atropine, salbutamol.
•Stimulants, e.g. caffeine, alcohol, amphetamines.
•Blood or fluid loss, e.g. post-operative.
•Inappropriate sinus tachycardia (a persistent resting sinus tachycardia, diagnosed when all other possible causes have been excluded).
In assessing abnormal heart rhythms causing tachycardia, it is helpful to divide them into narrow-complex tachycardia (QRS duration <120ms) and broad-complex tachycardia (QRS duration >120ms).
•Sinus tachycardia (see above).
•Narrow-complex tachycardia with aberrant conduction.
•Accelerated idioventricular rhythm.
•12-lead ECG to identify the underlying rhythm.
•Consider bedside monitoring on the Coronary Care Unit (CCU), particularly if the patient is compromised or ventricular arrhythmias are suspected.
•Other investigations depend upon the underlying cause but may include:
•Electrophysiological studies.
It can be useful to perform carotid sinus massage (► exclude carotid bruits first) or to give IV adenosine (► do not use in asthma/COPD), whilst the patient is on a bedside ECG monitor. Supraventricular tachycardias will usually slow transiently, allowing clearer identification of the underlying atrial activity, and re-entry tachycardias may terminate altogether. Ventricular tachycardias will be unaffected.
OHCM 10e, Chapter 3.
Tinnitus is a common symptom in which the patient perceives a sound, often chronic and distressing, in the absence of aural stimulation. It usually manifests as a ‘ringing’ or ‘buzzing’ in the ears. Tinnitus may occur as a symptom of nearly all disorders of the auditory apparatus. Psychological stresses may be relevant in some cases.
•Acoustic trauma (prolonged exposure to loud noise, e.g. gunshots, amplified music).
•Barotrauma (blast injury, perforated tympanic membrane).
•Obstruction of the external auditory meatus (wax, foreign body, infection).
•Gentamicin—may be irreversible.
•Intra- or extracranial aneurysm (typically causes ‘pulsatile’ tinnitus).
Note: consider acoustic neuroma in unilateral tinnitus ( OHCM 10e, Chapter 10).
•Serum concentrations of, e.g. salicylates, gentamicin (► mandatory during systemic therapy).
•Assessing air and bone conduction thresholds.
•Tympanometry and acoustic reflex testing.
•Speech perception thresholds.
•CT temporal bone (acoustic neuroma).
•Cranial MRI (following specialist advice).
OHCM 10e, p. 464.
Tiredness is a common presenting complaint in the endocrine clinic. Important diagnoses to exclude are hypo-/hyperthyroidism, hypoadrenalism, hypercalcaemia, and DM. A U&E is useful to exclude hyponatraemia or hypokalaemia (muscle weakness), as well as renal failure.
Urgency of micturition denotes a strong desire to void and the patient often has to rush to the toilet because of an acute call to micturate. Urinary incontinence may result, especially if physical mobility is impaired. Urgency forms part of a cluster of symptoms which include frequency of micturition ( Polyuria, p. 90), nocturia, and hesitancy of micturition.
•States of polyuria ( Polyuria, p. 90); may lead to urinary incontinence ( Incontinence: urinary, p. 61).
•Urinalysis—stick test for glucose, protein, blood, and nitrites.
•MSU for microscopy and culture.
•PSA is ↑ in 30–50% of patients with benign prostatic hyperplasia, and in 25–92% of those with prostate cancer (depending on tumour volume), i.e. a normal PSA does not exclude prostatic disease. Check the reference range with the local laboratory.
•Transrectal USS of the prostate.
•Prostatic biopsy (specialist procedure).
•Gynaecological disease, e.g. pelvic floor instability, uterine prolapse.
•States of polyuria; may lead to urinary incontinence ( Incontinence: urinary, p. 61).
•MSU for microscopy and culture.
OHCM 10e, p. 80, p. 648.
Itchy superficial wheals; may be giant. Distinguish acute from chronic—chronic is rarely allergic in origin. If persists for >24h and fades with brown staining, consider urticarial vasculitis (rare).
•Allergic: drugs, foods, additives, acute infection, e.g. HBV, Mycoplasma.
•Physical: sunlight, heat, cold, pressure, vibration.
•Thyroid disease: hypo- or hyperthyroidism.
•Occult infection: gall bladder, dental, sinus.
•Vitamin deficiency: B12, folic acid, iron.
•Autoimmune: antibodies against IgE receptor on mast cells—very rare.
Allergy tests are of little value, unless there is a clearly identified trigger.
Disease caused by inflammatory destructive changes of blood vessel walls (see Table 1.17).
Wide variety of clinical presentations affecting one or more organ systems:
•Skin: splinter haemorrhages, nailfold infarcts, petechiae, purpura, livedo reticularis.
•Respiratory: cough, haemoptysis, breathlessness, pulmonary infiltration, sinusitis.
•Renal: haematuria, proteinuria, hypertension, ARF.
•Neurological: mononeuritis multiplex, sensorimotor polyneuropathy, confusion, fits, hemiplegia, meningoencephalitis.
•Musculoskeletal: arthralgia, arthritis, myalgia.
•Generalized: PUO, weight loss, malaise.
Table 1.17 Causes of 1° vasculitis
| Granulomatous | Non-granulomatous | |
| Large vessel | Giant cell arteritis (GCA) | Takayasu’s arteritis |
| Medium vessel | Churg–Strauss disease | Polyarteritis nodosa |
| Small vessel | Wegener’s arteritis | Microscopic arteritis |
•Biopsy of artery and/or skin lesions.
•Urine dipstick and microscopy.
OHCM 10e, p. 314, p. 556, p. 557.
Total loss of vision may be bilateral or unilateral. Unilateral blindness is due to a lesion either of the eye itself or between the eye and the optic chiasm. Determine whether the visual loss is gradual or sudden. Gradual loss of vision occurs in conditions such as optic atrophy or glaucoma. In the elderly, cataract and macular degeneration are common. Remember tobacco amblyopia and methanol toxicity. Trachoma is a common cause worldwide.
•Central retinal artery occlusion.
•Central retinal vein occlusion.
•Vitreous haemorrhage. (Note: proliferative diabetic retinopathy.)
•Temporal (giant cell) cell arteritis (TA). Note: visual loss is potentially preventable with early high-dose corticosteroid therapy ( OHCM 10e, Chapter 10).
•Acute severe quinine poisoning (consider stellate ganglion block).
•Hysteria (rare), e.g. is blindness:
•Complete? No pupil response or opticokinetic nystagmus.
•Cortical? Normal pupillary light reflex, no opticokinetic nystagmus.
•Hysterical? Normal pupillary light reflex, normal opticokinetic nystagmus.
•HELLP syndrome complicating pre-eclampsia—rare.
Investigations will be determined by the history and examination findings; a specialist opinion should be sought without delay.
•Autoimmune profile, including cytoplasmic ANCA (cANCA)/perinuclear ANCA (pANCA).
•Temporal artery biopsy (within days; ►► do not withhold steroid therapy).
•Visual acuity (Snellen chart).
•Intraocular pressure measurement (tonometry).
•Fluorescein angiography (specialist investigation—may delineate diabetic retinopathy in more detail. ►► Risk of anaphylaxis).
•LP (CSF protein and OCBs if MS suspected).
Screen for risk factors and causes of cerebrovascular thromboembolic disease:
Wasting of the small muscles of the hand may be found in isolation or may be associated with other neurological signs. If found in isolation, this suggests a spinal lesion at the level of C8/T1 or distally in the brachial plexus or upper limb motor nerves.
•Brachial plexus trauma (Klumpke’s palsy).
•Pancoast’s tumour (may be associated with Horner’s syndrome).
•Malignant infiltration of the brachial plexus.
•Carpal tunnel syndrome (common).
•Cervical spondylosis (common).
•Combined median and ulnar nerve lesions.
•NCS ( Nerve conduction studies, pp. 606–608).
•EMG ( Electromyogram, pp. 610–611).
•LP, CSF protein, etc. ( Lumbar puncture, pp. 584–589).
•MRI of the cervical cord/brachial plexus.
•Small intestinal disease (coeliac, bacterial overgrowth).
•Malignant disease (carcinoma and haematological malignancies).
May well need extensive investigation before determining the cause, but start with:
•Stool culture (if appropriate).
•Other endocrine tests as appropriate.
OHCM 10e, p. 35, p. 245.
Wheezes (rhonchi) are continuous high-, medium-, or low-pitched added sounds audible during respiration. Typically they are loudest on expiration in asthma and may on occasion be heard without a stethoscope. The implication is reversible or irreversible airway obstruction. If wheeze is audible only during inspiration, this is termed stridor, implying an upper respiratory obstruction. An important distinction must be made between monophonic and polyphonic wheezes and whether wheeze is localized to a single area or is heard throughout the thorax.
Wheezes with multiple tones and pitch. The commonest causes of wheeze (usually recurrent) are:
•COPD (often audible during both phases of respiration).
A wheeze with a single constant pitch. Implies local bronchial obstruction, usually due to:
Note: stridor is a harsh form of monophonic wheeze arising from an upper airway obstruction ( Stridor, p. 104).
•ABGs. (Note: inspired O2 concentration should be recorded.)
•Pulse oximetry at the bedside (does not provide information about the partial pressure of carbon dioxide (PCO2)).
•Spirometry (peak flow rate (PFR), pre- and post-bronchodilator therapy).
•Pulmonary function tests (forced expiratory volume in 1s (FEV1), forced vital capacity (FVC), total lung capacity; Flow volume loops/maximum expiratory flow–volume curve, p. 554).
•CXR (posteroanterior (P-A) and lateral).
•Sputum cytology (if tumour suspected).
•Bronchoscopy and biopsy (specialist procedure—especially if foreign body or suspected tumour).
OHCM 10e, p. 52.
