Get Ahead EMQs Flashcards
A 45-year-old woman collapses during a church service in summer. Her husband states that she turned pale and collapsed shortly after standing up. She did not jerk or lose urinary continence. She denies chest pain, shortness of breath and palpitations. She recovered after 30 seconds and now feels back to her usual self. All observations – including blood tests, ECG, and lying and standing blood pressure – are normal
A. Acute myocardial infarction B. Cerebrovascular accident C. Dissecting aortic aneurysm D. Drug allergy E. First-dose hypotension F. Left ventricular failure G. Ruptured abdominal aortic aneurysm H. Stable angina I. Stokes–Adams attack J. Supraventricular tachycardia K. Vasovagal syncope L. Ventricular rupture M. Wolff–Parkinson–White syndrome
K – Vasovagal syncope
Vasovagal syncope occurs when there is excessive activation of the parasympathetic nervous system in response to certain stimuli, such as heat, fear and stress. The parasympathetic activity causes systemic vasodilatation and bradycardia, which triggers profound hypotension and cerebral hypoperfusion. Collapse is often preceded by a feeling of faintness, nausea, sweating and ringing in the ears. Occasionally, witnesses may describe the patient twitching and a loss of urinary incontinence, which may be confused with seizure activity. Following collapse, cerebral perfusion is restored and recovery is rapid. Situational syncope describes the scenario when vasovagal episodes are triggered by specific actions, such as coughing, urinating or having blood taken.
In all cases of collapse, the patient should be questioned about the presence of chest pain, shortness of breath, urinary incontinence, tongue biting, palpitations, weakness and paraesthesia. A pre-/peri-/post-collapse history is essential, and should be supplemented by a collateral history from a witness when available. Routine investigation should always include ECG, capillary blood glucose, and lying and standing blood pressure.
A 72-year-old man attends the emergency department following a fall. On examination, there is bruising on the right upper arm and the man is unable to extend his metacarpals on the same side. There is loss of sensation over the lateral dorsal aspect of the hand.
A. Accessory nerve B. Anterior interosseous nerve C. Axillary nerve D. Distal median nerve E. Distal ulnar nerve F. Long thoracic nerve G. Lower brachial plexus H. Posterior interosseous nerve I. Proximal median nerve J. Proximal ulnar nerve K. Radial nerve L. Upper brachial plexus
K – Radial nerve
The radial nerve runs in close proximity to the shaft of the humerus in the spiral groove. Common causes of radial nerve palsies include humeral shaft fractures (as in this scenario, in which case patients also suffer bruising to the upper arm), compression of the nerve in the arm with prolonged use of ill-fitting crutches, and elbow dislocations or Monteggia fractures. Damage to the radial nerve is also seen in people who fall asleep with their arm hanging over the back of a chair (‘Saturday night palsy’).
The radial nerve supplies the extensors to the forearm and wrist, and radial nerve palsy results in an inability to extend the wrist or metacarpophalangeal joints (wrist drop), forearm extensor wasting and a loss of sensation in the anatomical snuffbox. The anatomical snuffbox is the name given to the triangular region on the radial dorsal aspect of the hand at the level of the carpal bones. It is so called as this was the surface used since the 16th century for placing and snorting ‘snuff’ (powdered tobacco).
A 28-year-old man is involved in a motorcycle accident. He has fractured both his femurs and complains of pain in his neck. On examination, his right arm is hanging by his side, is fully extended at the elbow and is rotated inwards. There is loss of sensation on the outer edge of the right arm and forearm.
A. Accessory nerve B. Anterior interosseous nerve C. Axillary nerve D. Distal median nerve E. Distal ulnar nerve F. Long thoracic nerve G. Lower brachial plexus H. Posterior interosseous nerve I. Proximal median nerve J. Proximal ulnar nerve K. Radial nerve L. Upper brachial plexus
L – Upper brachial plexus
Upper brachial plexus injuries, also known as Erb’s palsy, involve the C5 and C6 nerve roots (the brachial plexus is made of the roots C5–T1). They are commonly caused by traction injuries, such as motorcycle accidents or birth injuries (due to pulling on the baby’s arm). There is flaccid paralysis of the arm abductors, lateral rotators of the shoulder and supinators, so the affected arm hangs limp and is medially rotated, extended at the elbow and pronated, with the hand pointing backwards – the ‘waiter’s tip’ position. Paralysis is accompanied by loss of sensation over the lateral arm and forearm.
A 46-year-old type 1 diabetic man attends a routine follow-up clinic. A urine dipstick analysis demonstrates 3+ protein, 1+ blood, no nitrates and no leucocytes. His annual blood tests show a sodium of 135 mmol/L, a potassium of 4.9 mmol/L, a creatinine of 130 µmol/L and a urea of 8.9 mmol/L.
A. Atherosclerosis B. Autonomic neuropathy C. Charcot’s joint D. Connective tissue disease E. Diabetes dermopathy F. Lipoatrophy G. Lipohypertrophy H. Peripheral vascular disease I. Neuropathic ulcer J. Nephropathy K. Necrobiosis lipoidica L. Osteoarthritis M. Venous ulce
J – Nephropathy
Diabetic nephropathy is an important cause of morbidity and mortality in the diabetic population, with up to 30% developing chronic renal failure during their lifetime. Diabetic nephropathy has a complex pathophysiology, which can be simplified into three important processes: glomerular involvement, ischaemia and infection. Important contributors to the development of diabetic nephropathy are poor glycaemic control, hypertension and renovascular disease (e.g. renal artery stenosis). The earliest detectable sign of nephropathy is microalbuminuria, i.e. the presence of trace amounts of albumin in the urine that are not detectable using standard dipstick analysis. If untreated, microalbuminuria can progress to intermittent albuminuria and then persistent albuminuria. It is thought that patients with persistent albuminuria are 5–10 years away from end-stage renal failure, even if their creatinine is normal. To reduce the risk of developing end-stage renal failure, all diabetic patients should have their kidney function and urine tested on a regular basis. Good glycaemic and blood pressure control are essential and must be communicated to the patient. Angiotensin-converting enzyme (ACE) inhibitors and angiotensin II receptor antagonists have been shown to reduce the progression of microalbuminuria, and also contribute to blood pressure control.
A 37-year-old type 1 diabetic man presents to his GP complaining of a painless discoloured lesion over the lateral aspect of his right lower leg. It began as a well-circumscribed red nodule, but enlarged and flattened over time. The surface is brownish-yellow and scaly and has a number of telangiectatic vessels.
A. Atherosclerosis B. Autonomic neuropathy C. Charcot’s joint D. Connective tissue disease E. Diabetes dermopathy F. Lipoatrophy G. Lipohypertrophy H. Peripheral vascular disease I. Neuropathic ulcer J. Nephropathy K. Necrobiosis lipoidica L. Osteoarthritis M. Venous ulce
K – Necrobiosis lipoidica
Necrobiosis lipoidica diabeticorum is a rare dermatological complication of diabetes mellitus seen in approximately 1% of patients. It is most often occurs on the anterolateral aspect of the lower limb. The lesion usually begins as a small red nodule that increases in size and flattens over time. Eventually, the lesion becomes depressed, irregular, scaly or waxy, and develops a brownish-yellow discoloration. If the lesion is not ulcerated, topical steroids in association with appropriate dressings can be applied. If ulceration is present, immunosuppressive agents such as ciclosporin can be beneficial. Treatment is often unsuccessful.
Lipoatrophy describes a localized loss of fat tissue, which may occur in people with diabetes at the site of repeated subcutaneous insulin injections. The opposite condition is lipohypertrophy, the accumulation of fat at the point of repeated subcutaneous injections. Both of these conditions can be avoided by regularly rotating injection sites.
A 12-year-old boy is brought to the GP by his mother. Over the last couple of years, he has suffered from repeated chest infections, and his mother is worried that he is not putting on any weight. On examination, there are coarse crepitations throughout both lung lobes.
A. Asbestos-related lung disease B. Asthma C. Bronchiectasis D. Chronic obstructive pulmonary disease E. Cryptogenic fibrosing alveolitis F. Cystic fibrosis G. Extrinsic allergic alveolitis H. Mesothelioma I. Non-small cell lung tumour J. Open pneumothorax K. Sarcoidosis L. Secondary lung metastases M. Sleep apnoea N. Small cell lung tumour O. Tuberculosis
F – Cystic fibrosis
Cystic fibrosis (CF) is the commonest autosomal recessive condition in white populations in the UK, affecting 1 in 2500 live births. CF is caused by an abnormal gene coding for the cystic fibrosis transmembrane regulator protein (CFTR), located on chromosome 7. CFTR is a cAMP-dependent chloride channel blocker. The most common mutation in CF is the ∆F508 mutation. The poor transport of chloride ions and water across epithelial cells of the respiratory and pancreatic exocrine glands in CF results in an increased viscosity of secretions. The range of presentations is varied, including recurrent chest infections, failure to thrive due to malabsorption and liver disease. In the neonatal period, infants may present with prolonged neonatal jaundice, bowel obstruction (meconium ileus) or rectal prolapse.
The boy in this case has bilateral coarse crepitations. Given the history, these are a sign of bronchiectasis. Bronchiectasis is an abnormal dilatation of the bronchioles. Causes of bronchiectasis can be congenital (ciliary dyskinesia or CF) or acquired (whooping cough, measles or tuberculosis). Pus accumulates in the dilated bronchi, resulting in a productive cough that is worse in the morning and brought about by changes in posture. Bronchiectasis is associated with clubbing of the fingers. The best investigation to confirm bronchiectasis is CT. Management is by physiotherapy (postural drainage and chest percussion) and prompt antibiotics for respiratory tract infections.
A 25-year-old man presents with facial and ankle swelling. He is found to have 3+ of protein in his urine on dipstick analysis. Blood tests reveal an albumin of 16 g/L.
A. Drug-induced glomerulonephritis B. Focal segmental glomerulosclerosis C. Goodpasture’s syndrome D. IgA nephropathy E. Membranous glomerulonephritis F. Mesangiocapillary glomerulonephritis G. Minimal-change glomerulonephritis H. Post-streptococcal glomerulonephritis I. Rapidly progressive glomerulonephritis J. Rhabdomyolysis
E – Membranous glomerulonephritis
Membranous glomerulonephritis is the most common cause of nephrotic syndrome in adults. In this condition, immune complexes are formed when circulating antibodies bind to basement membrane antigens or antigens deposited in the glomerulus from the circulation. The immune complexes activate an immunological response that involves the complement cascade. This response damages the glomerular basement membrane, making it more permeable. Membranous glomerulonephritis is usually idiopathic (90%), but may be secondary to a number of disease processes, including systemic lupus erythematosus, hepatitis B, systemic infection and drugs.
Treatment is largely the same as for nephrotic syndrome in children (see above). The prognosis is variable. Approximately one-third of patients recover spontaneously, one-third will respond to immunosuppression and one-third will develop end-stage renal failure. Up to 5% of patients will develop renal vein thrombosis.
A 15-year-old girl presents to the GP 2 weeks after being diagnosed with tonsillitis. She is generally unwell and puffy and complaining of dark urine. Urine dipstick analysis shows 3+ of protein and 3+ of blood. She is found to have high titres of antistreptolysin O antibody.
A. Drug-induced glomerulonephritis B. Focal segmental glomerulosclerosis C. Goodpasture’s syndrome D. IgA nephropathy E. Membranous glomerulonephritis F. Mesangiocapillary glomerulonephritis G. Minimal-change glomerulonephritis H. Post-streptococcal glomerulonephritis I. Rapidly progressive glomerulonephritis J. Rhabdomyolysis
H – Post-streptococcal glomerulonephritis
This form of glomerulonephritis is usually seen 1–2 weeks after an infection caused by a group A β-haemolytic streptococcus, e.g. tonsillitis or cellulitis. The pathophysiology involves immune complex deposition within the glomerular basement membrane. Patients present with acute nephritic syndrome, i.e. fluid retention, peripheral oedema, hypertension, proteinuria and haematuria. The urine is classically dark in colour and is sometimes referred to as ‘Pepsi urine’. Investigation usually reveals proteinuria, haematuria, elevated anti-streptolysin O titres and reduced complement (C3). In cases with a clear history and consistent initial investigation results, renal biopsy is often not required. Management is largely supportive with fluid restriction and antihypertensive medications.
A 45-year-old man is admitted with headache and neck stiffness. A lumbar puncture is performed and reveals the following results: clear fluid, lymphocytes 2/mm3, neutrophils 1/mm3, low glucose, high protein, positive India ink stain.
A. Cryptococcus neoformans B. Haemophilus influenzae C. Malignancy D. Multiple sclerosis E. Mumps F. Mycobacterium tuberculosis G. Neisseria meningitidis H. Streptococcus pneumoniae
A – Cryptococcus neoformans (fungal)
A 43-year-old man with a long history of bipolar disorder presents to his GP complaining of weight gain, lethargy and feeling cold all the time. Blood tests show a low T 4 level and a high TSH level.
A. De Quervain’s thyroiditis B. Graves’ disease C. Hashimoto’s thyroiditis D. Hypopituitarism E. Hypothyroidism secondary to amiodarone therapy F. Hypothyroidism secondary to lithium therapy G. Sick euthyroid syndrome H. Single toxic nodule goitre I. Thyroid cancer J. Toxic multinodular goitre
F – Hypothyroidism secondary to lithium therapy
Lithium, a drug used to treat bipolar disorder (manic depression), is one of a number of medications known to affect the thyroid gland. Lithium can cause goitre formation and inhibit T4 and triiodothyronine (T3) secretion from the thyroid gland. Therefore, prior to starting lithium, every patient should receive a neck examination and have their thyroid function checked. The majority of patients taking lithium become subclinically hypothyroid (i.e. are asymptomatic, with a normal T 4 level and a high TSH). Unless the patient is acutely unwell, it is usual practice to continue the lithium and start the patient on T4 replacement. After commencing therapy, thyroid function should be tested every 6 months.
A 38-year-old man who is currently in hospital being treated for a severe chest infection is shown to have low T4 and TSH levels.
A. De Quervain’s thyroiditis B. Graves’ disease C. Hashimoto’s thyroiditis D. Hypopituitarism E. Hypothyroidism secondary to amiodarone therapy F. Hypothyroidism secondary to lithium therapy G. Sick euthyroid syndrome H. Single toxic nodule goitre I. Thyroid cancer J. Toxic multinodular goitre
G – Sick euthyroid syndrome
Sick euthyroid syndrome describes abnormal thyroid function in the presence of systemic disease. There are many different subtypes of sick euthyroidism, but, as a general rule, the T3 and T4 levels are low, with TSH levels falling in more severe disease (i.e. everything is low). As the patient recovers from the underlying disease, the thyroid function usually returns to normal.
A 70-year-old man presents with a 6-month history of worsening forgetfulness and intellectual decline. He has, however, had frequent episodes of relative lucidness during this period. He tries to chase soldiers whom he thinks he sees in the garden, but his gait has markedly slowed down. His sleeping pattern is now irregular.
A. Alzheimer’s disease B. Creutzfeldt–Jakob disease C. Depression D. HIV dementia E. Huntington’s disease F. Lewy body dementia G. Normal-pressure hydrocephalus H. Parkinson’s disease I. Pick’s disease J. Vascular dementia K. Wernicke–Korsakoff syndrome
F – Lewy body dementia
Lewy body dementia is the second most common dementia after Alzheimer’s disease. Characteristic features of Lewy body dementia include day-today fluctuating levels of cognitive functioning, visual hallucinations, sleep disturbance, transient loss of consciousness, recurrent falls and parkinsonian features (tremor, hypokinesia, rigidity and postural instability). Although people with Lewy body dementia are prone to hallucination, antipsychotics should be avoided, as they precipitate severe parkinsonism in 60%. Lewy bodies are abnormalities of the cytoplasm found within neurons, containing various proteins and granular material. They are found in the cerebral cortex in patients with Lewy body dementia, and are also found in patients with Parkinson’s disease
A 52-year-old woman presents to the emergency department following her first-ever seizure. Her husband said that she had to leave her job because, over a period of 2 months, she rapidly lost the ability to cope with its intellectual demands. A previous cryptic crossword fanatic, she cannot even fill out the simplest tabloid grid. On further questioning, she admits to muscle weakness and difficulty walking.
A. Alzheimer’s disease B. Creutzfeldt–Jakob disease C. Depression D. HIV dementia E. Huntington’s disease F. Lewy body dementia G. Normal-pressure hydrocephalus H. Parkinson’s disease I. Pick’s disease J. Vascular dementia K. Wernicke–Korsakoff syndrome
B – Creutzfeldt–Jakob disease
Creutzfeldt–Jakob disease (CJD) is a rapidly progressive dementia caused by prions (infectious agents composed only of protein). The prion proteins can be transmitted by neurosurgical instruments and human-derived pituitary hormones. Features of CJD include rapid cognitive impairment, which may be preceded by anxiety and depression. Eventually, physical features become prominent, including muscle disturbance (rigidity, tremor, wasting, spasticity, fasciculations, cyclonic jerks and choreoathetoid movements). Convulsions may also occur. The EEG is characteristic (showing stereotypical sharp wave complexes). Death occurs within 6–8 months.
New variant CJD (nvCJD) occurs secondary to ingestion of bovine spongiform encephalopathy (BSE)-infected beef. It is more common in younger adults. The features are as for CJD, but decline is slower, with death occurring within 18 months. There are no typical EEG changes in nvCJD, although there is a characteristic feature on MRI (symmetrical hyperintensity in the posterior nucleus of the thalamus – the pulvinar sign).
A 69-year-old woman presents after a fall, having been unsteady on her feet for some time. She has severe memory loss, but is relatively well orientated. She has recently developed urinary incontinence. On examination, she has a wide-based gait.
A. Alzheimer’s disease B. Creutzfeldt–Jakob disease C. Depression D. HIV dementia E. Huntington’s disease F. Lewy body dementia G. Normal-pressure hydrocephalus H. Parkinson’s disease I. Pick’s disease J. Vascular dementia K. Wernicke–Korsakoff syndrome
G – Normal-pressure hydrocephalus
Normal-pressure hydrocephalus is characterized by the triad of dementia (mainly memory problems), gait disturbance and urinary incontinence. It is caused by an increased volume of CSF, but with only a slightly raised pressure (as the ventricles dilate to compensate). There is an underlying obstruction in the subarachnoid space that prevents CSF from being reabsorbed but allows it to flow from the ventricular system into the subarachnoid space. Diagnosis is by lumbar puncture (to demonstrate a normal CSF opening pressure) followed by head CT/MRI (showing enlarged ventricles). Treatment is with ventriculoperitoneal shunting.
A 26-year-old woman presents with a 3-month history of general malaise, fever and weight loss. Over the last week, she has developed an intermittent cramping pain in her right arm. On examination, the upper limbs appear normal, but the radial pulses are not palpable.
A. Behçet’s disease B. Churg–Strauss syndrome C. Giant cell arteritis D. Kawasaki’s disease E. Microscopic polyangiitis F. Polyarteritis nodosa G. Polymyalgia rheumatica H. Takayasu’s arteritis I. Wegener’s disease
H – Takayasu’s arteritis
Vasculitis is an inflammation of the blood vessels. Takayasu’s arteritis (also known as ‘pulseless disease’) is a rare granulomatous inflammation of the aorta and its major branches. This results in poor blood flow to the peripheries and a lack of distal pulses. It is commonest in Japanese women. Patients present with systemic illness (malaise, fever and weight loss) and arm claudication. A third of patients suffer visual disturbance. Examination reveals absent pulses and arterial bruits. Diagnosis is by angiography, which demonstrates the inflamed constricted major vessels. Treatment is with steroids, but surgery may be required to bypass significantly stenosed or obliterated vessels.
A 32-year-old man presents with shortness of breath. He feels that it is similar to the asthma that he had as a child. He has also developed hayfever recently, which he has never had before. On examination, a palpable, purple rash is seen on the legs.
A. Behçet’s disease B. Churg–Strauss syndrome C. Giant cell arteritis D. Kawasaki’s disease E. Microscopic polyangiitis F. Polyarteritis nodosa G. Polymyalgia rheumatica H. Takayasu’s arteritis I. Wegener’s disease
B – Churg–Strauss syndrome
Churg–Strauss syndrome is a rare systemic vasculitis that is associated with eosinophilia and asthma. The disease may be triphasic, with a prodromal period (rhinitis and allergies), eosinophilia (asthma or eosinophilic gastroenteritis) and finally a systemic vasculitis. Churg–Strauss syndrome is associated with perinuclear antineutrophil cytoplasmic antibodies (pANCAs). Treatment is with steroids.
A 29-year-old man complains of recurrent painful ulceration in his mouth and on his genitals. The ulceration is clearly seen on examination. Swab cultures are taken and found to be negative for herpes simplex virus.
A. Behçet’s disease B. Churg–Strauss syndrome C. Giant cell arteritis D. Kawasaki’s disease E. Microscopic polyangiitis F. Polyarteritis nodosa G. Polymyalgia rheumatica H. Takayasu’s arteritis I. Wegener’s disease
A – Behçet’s disease
Behçet’s disease (pronounced ‘beh-chet’) is a chronic vasculitis most common in Turkey and the eastern Mediterranean. There is a strong association with HLA-B5 and disease is more severe in males. Behçet’s disease is characterized by an occlusive vasculitis and venulitis. The diagnosis is based on the clinical features, which include recurrent oral and genital ulceration, recurrent iritis, skin lesions, and thrombophlebitis. The pathergy reaction (where red papules >2 mm develop after 48 hours at sites of needle pricks) is pathognomonic of Behçet’s disease.
A 65-year-old woman presents with a pain in her shoulders. The pain came on suddenly this morning, and now she is barely able to move her arms. She is otherwise well. On examination, shoulder movement is limited by stiffness bilaterally
A. Behçet’s disease B. Churg–Strauss syndrome C. Giant cell arteritis D. Kawasaki’s disease E. Microscopic polyangiitis F. Polyarteritis nodosa G. Polymyalgia rheumatica H. Takayasu’s arteritis I. Wegener’s disease
G – Polymyalgia rheumatica
Polymyalgia rheumatica is not a vasculitis but is found in 50% of people with temporal arteritis (below). It is commonest in females over 50 years. Patients present with abrupt-onset proximal muscle pain (shoulder and hips) and stiffness without weakness. (The lack of weakness helps distinguish polymyalgia rheumatica from polymyositis.) Symptoms are worse in the morning. Treatment is with corticosteroids, and the response is prompt and dramatic.
Giant cell arteritis (temporal arteritis) is an inflammatory vasculitis of the cranial branches arising from the aorta. It is most common in the over-50s and is twice as frequent in females. Clinical features include general malaise, temporal headache, scalp tenderness and jaw claudication. Eventually, visual disturbance or visual loss can occur due to ischaemic optic neuritis caused by arteritis of the posterior ciliary artery and branches of the ophthalmic arteries. On examination, an enlarged, tender, non-pulsatile temporal artery is seen on the affected side. Temporal artery biopsy is the definitive investigation (showing patchy granulomatous inflammation), but skip lesions may be present and investigation should not delay treatment. Management is with prednisolone.
A 42-year-old man presents with a 2-month history of recurrent nosebleeds. More recently, he has started coughing up blood as well. On examination, there is a deformity in the bridge of his nose.
A. Behçet’s disease B. Churg–Strauss syndrome C. Giant cell arteritis D. Kawasaki’s disease E. Microscopic polyangiitis F. Polyarteritis nodosa G. Polymyalgia rheumatica H. Takayasu’s arteritis I. Wegener’s disease
I – Wegener’s disease
Wegener’s disease is a granulomatous necrotizing vasculitis characterized by a classic triad of involvement: upper airway pathology (epistaxis, saddle nose deformity, rhinitis, deafness and proptosis), respiratory disease (pulmonary nodules and pulmonary haemorrhage) and renal disease (glomerulonephritis). It is associated with cytoplasmic antineutrophil cytoplasmic antibodies (cANCAs) in 90% of cases. Treatment is with steroids and immunosuppressants
A 54-year-old woman with end-stage liver failure secondary to primary biliary cirrhosis is noticed to have a rising serum creatinine and urea, and is passing only small volumes of urine each day.
A. Clotting factor deficiency B. Hepatic encephalopathy C. Hepatorenal syndrome D. Hypoalbuminaemia E. Hypoglycaemia F. Lower gastrointestinal bleed G. Ruptured oesophagus H. Seizure I. Spontaneous bacterial peritonitis J. Thrombocytopenia K. Upper gastrointestinal bleed
C – Hepatorenal syndrome
Hepatorenal syndrome is seen in up to 20% of patients with cirrhosis and portal hypertension. In hepatorenal syndrome, the patient develops acute renal failure despite having histologically normal kidneys. It is thought to arise secondary to the release of vasoactive substances that cause dilatation of the splanchnic vasculature and constriction of the renal cortical vasculature. This combination of events reduces the glomerular filtration rate. The treatment of hepatorenal syndrome involves restoring the intravascular volume with human albumin solution and reversing the splanchnic dilatation with potent arterial vasoconstrictors such as terlipressin. Severe and refractory disease may require liver transplantation for cure.
A 34-year-old woman presents with multiple painful lesions over her body. On examination, each of these lesions is soft and mobile and 2cm in size. She has no other symptoms.
A. Cavernous haemangioma B. Deep capillary naevus C. Dercum’s disease D. Ganglion E. Granuloma annulare F. Kaposi’s sarcoma G. Neurofibroma H. Pyogenic granuloma I. Sebaceous cyst J. Seborrhoeic keratosis K. Superficial capillary naevus
C – Dercum’s disease
These woman’s lesions are lipomas – soft, mobile lesions composed of fatty tissue that are usually painless. However, the presence of multiple painful lipomas is known as Dercum’s disease (or adiposis dolora). This occurs most commonly in obese middle-aged women, and may be accompanied by headaches, amenorrhoea and reduced sweating. Simple lipomas can be removed by excision for cosmetic reasons.
A 5-year-old girl was admitted to the emergency department with a seizure. On examination, she has a well-demarcated, purple, flat lesion over her right cheek and forehead. Her parents say that this has been present since birth.
A. Cavernous haemangioma B. Deep capillary naevus C. Dercum’s disease D. Ganglion E. Granuloma annulare F. Kaposi’s sarcoma G. Neurofibroma H. Pyogenic granuloma I. Sebaceous cyst J. Seborrhoeic keratosis K. Superficial capillary naevus
B – Deep capillary naevus
A deep capillary naevus (or port-wine stain) is a malformation of the capillaries in the deep and superficial dermis. These are congenital malformations that can occur anywhere in the body but are most often found unilaterally on the face. Occasionally, a port-wine stain is associated with seizures, learning difficulties and eye abnormalities (glaucoma and optic atrophy) due to underlying cranial malformations. This is known as Sturge–Weber syndrome and is usually associated with a port-wine stain in the distribution of the ophthalmic or maxillary division of the trigeminal nerve.
Superficial capillary naevi (also known as salmon patches) are small, flat, pink patches of skin with poorly defined borders. They are commonly found on the forehead (‘angel’s kiss’) or on the nape of the neck (‘stork mark’). Most superficial naevi disappear in the first year of life
An 18-month-old boy is brought to the GP by his parents with a red lesion on his forehead. This was not present at birth, but has been growing for 3 months. On examination, the lesion is 3 cm, bright red and well defined. There are no other symptoms.
A. Cavernous haemangioma B. Deep capillary naevus C. Dercum’s disease D. Ganglion E. Granuloma annulare F. Kaposi’s sarcoma G. Neurofibroma H. Pyogenic granuloma I. Sebaceous cyst J. Seborrhoeic keratosis K. Superficial capillary naevus
A – Cavernous haemangioma
A cavernous haemangioma (or strawberry naevus) is a condition that appears in the first months of life as a bright-red lesion on the face or trunk that grows rapidly. Occasionally, these lesions bleed or ulcerate. Cavernous haemangiomas eventually regress and disappear spontaneously, so intervention is required only if lesions persist beyond a few years of age. Cavernous haemangiomas may rarely be associated with thrombocytopenia and haemolytic anaemia secondary to trapping and destruction of platelets and erythrocytes within the lesions. This is known as Kasabach–Merritt syndrome.
A 15-month-old boy is brought to the emergency department with a grossly swollen right knee. His parents claim that he has had several episodes of bleeding into his joints and muscles over the previous 6 months. A clotting screen was requested and showed a significantly prolonged APTT with a normal PT and bleeding time. The full blood count showed a mild microcytic anaemia.
A. Acquired haemophilia B. Antibiotic side-effect C. Complication of warfarin therapy D. Congenital haemophilia E. Disseminated intravascular coagulation F. Global reduction in clotting factor synthesis G. Heparin overdose H. Hereditary haemorrhagic telangiectasia I. Hypofibrinogenaemia J. Pancytopenia K. Thrombocytopenia L. Von Willebrand’s disease
D – Congenital haemophilia
Haemophilia A is an X-linked recessive disorder of coagulation in which the patient cannot synthesize clotting factor VIII due to a gene mutation. Haemophilia B (also known as Christmas disease) is caused by an inability to synthesize factor IX and is clinically indistinguishable from the much more common haemophilia A. Although usually familial, a significant proportion of cases are caused by sporadic mutations. Factors VIII and IX are essential in the extrinsic clotting cascade, meaning that patients with haemophilia have a prolonged APTT. The intrinsic pathway does not require factors VIII or IX, and is therefore unaffected by haemophilia – shown by a normal PT. The bleeding time is also normal. Symptoms usually begin when the patient becomes mobile, i.e. when they begin to crawl or walk. Patients with haemophilia typically suffer painful recurrent bleeds into the joints and soft tissues (haemarthrosis), which may eventually lead to crippling arthropathy and neuropathy.
Six months after her original diagnosis, Mrs X (80 y/o, diagnosed with chronic heart failure) visits her GP because she still gets very short of breath, especially when she lies down. Her current medications include enalapril, atenolol, zopiclone, aspirin and furosemide. What additional treatment should the doctor prescribe her?
A. Angiotensin II receptor antagonist B. Angiotensin-converting enzyme inhibitors C. Amlodipine D. β-Blockers E. Brain-type natriuretic peptide F. Digoxin G. Lipid profile H. Loop diuretics I. Myoglobin J. Potassium-sparing diuretics K. Spironolactone L. Thiazide diuretics M. Thyroid function tests N. Transoesophageal echocardiography O. Transthoracic Doppler echocardiography P. Troponin I
K – Spironolactone
Spironolactone is an aldosterone antagonist; therefore it causes increased sodium secretion and reduced potassium excretion. Because it does not cause hypokalaemia (unlike the thiazide and loop diuretics), spironolactone is known as a potassium-sparing diuretic. Amiloride is another example of such a drug. Spironolactone is indicated in patients with severe symptomatic disease that is not controlled by optimal medical therapy to improve symptoms and mortality. Since this medication reduces potassium excretion by the kidneys, it should not be given to patients with a potassium level over 5.0 mmol/L or to patients taking potassium supplements. Patients should have their serum potassium measured prior to prescription and at regular intervals thereafter in order to detect hyperkalaemia. Other well-known side-effects of spironolactone include hyponatraemia, gynaecomastia and menstrual disturbance.
A 45-year-old woman presents to the GP complaining of a new rash. There are multiple, light-brown, depressed lesions on her shins, each around 2 cm in size. She has diabetes mellitus, but is otherwise well.
A. Acanthosis nigricans B. Alopecia C. Diabetic dermopathy D. Eruptive xanthomas E. Erythema ab igne F. Hyperhidrosis G. Necrobiosis lipoidica diabeticorum H. Paget’s disease I. Pretibial myxoedema J. Thrombophlebitis migrans K. Tylosis L. Xanthelasma
C – Diabetic dermopathy
Diabetic dermopathy describes the presence of depressed pigmented scars in the shin. It is associated with diabetic microangiopathy. Other skin features of diabetes include necrobiosis lipoidica diabeticorum (shiny, atrophic, yellowish-red plaques on the shins), cheiroarthropathy (a sclerodermalike thickening of the skin of the hands), granuloma annulare (small, papular lesions arranged in a ring and found on the back of the hands or feet) and acanthosis nigricans.
A 45-year-old woman presents to the GP complaining of a new rash. There is a dark-brown, lacy rash over the front of both of her shins. She has recently started treatment for an underactive thyroid, but is otherwise well.
A. Acanthosis nigricans B. Alopecia C. Diabetic dermopathy D. Eruptive xanthomas E. Erythema ab igne F. Hyperhidrosis G. Necrobiosis lipoidica diabeticorum H. Paget’s disease I. Pretibial myxoedema J. Thrombophlebitis migrans K. Tylosis L. Xanthelasma
E – Erythema ab igne
Erythema ab igne is a brown lacy rash seen on skin that has been exposed to heat for long periods of time. It classically develops in hypothyroid patients who are cold and spend a lot of time in front of the fire. Excessive hot water bottle use can also result in the rash.
Other cutaneous features of hypothyroidism include alopecia (especially loss of the outer third of the eyebrows), dry coarse hair, puffy yellow skin, periorbital oedema, xanthomas and a malar flush on an otherwise pale face (‘strawberries and cream’ appearance).
A 34-year-old woman has been suffering from profuse diarrhoea and vomiting for 4 days. She is now complaining of extreme muscle weakness and muscle cramps.
A. 3rd-degree heart block B. Atrial fibrillation C. Atrial flutter D. Bifid P-waves E. Delta wave F. J-waves G. Sinus arrhythmia H. Sinus tachycardia I. Tented T-waves J. U-waves
J – U-waves
The 4-day history of diarrhoea and vomiting followed by the development of severe muscle weakness and cramps suggests hypokalaemia secondary to excessive gastrointestinal potassium loss. Other causes of reduced total body potassium include diuretic use, Conn’s syndrome, excessive sweating and burns. Potassium can also be redistributed from the extracellular compartment into the intracellular compartment, resulting in a reduction in bioavailable potassium despite there being normal total body potassium levels. Causes of potassium redistribution include β2-antagonist use (e.g. salbutamol), excess insulin administration and alkalosis. The clinical features of hypokalaemia become evident with serum potassium levels less than 2.5 mmol/L. These include lethargy, polyuria, profound muscle weakness, muscle cramps, palpitations and arrhythmia. ECG changes in hypokalaemia include U-wave formation (upward deflections following the T-waves), flattened T-waves, ST-segment depression, and atrial and ventricular arrhythmias. Treatment of hypokalaemia involves correcting the underlying cause and replacing the lost potassium. Patients with potassium levels above 2.5 mmol/L can usually be managed with oral potassium supplements.
An 85-year-old man with dementia is brought to the emergency department by the ambulance after escaping from his care home during the night. He was found wandering on the local moors by a farmer in the early hours of the morning. He is shivering and confused. His core temperature is 31°C.
A. 3rd-degree heart block B. Atrial fibrillation C. Atrial flutter D. Bifid P-waves E. Delta wave F. J-waves G. Sinus arrhythmia H. Sinus tachycardia I. Tented T-waves J. U-waves
F – J-waves
This patient is hypothermic secondary to prolonged environmental exposure. Severe hypothermia can lead to coagulopathy, bradycardia, heart failure, arrhythmia and death. The ECG in severely affected patients may show an upward deflection following the R-wave of the QRS complex (J-wave). Patients with hypothermia should be re-warmed slowly at a rate no greater than 0.5°C/h, as rapid re-warming can cause vasodilatation, hypotension and circulatory collapse. Methods of re-warming include removal of wet clothing, supplying warmed humidified oxygen, applying a bear hugger device and infusing warm saline intravenously. More invasive methods of re-warming include peritoneal, pleural and bladder lavage with warmed fluid. Due to the risk of arrhythmia, hypothermic patients should be managed on a cardiac and blood pressure monitor.
This serological marker would indicate chronic hepatitis B infection if detected 6 months after the original infection.
A. α-Fetoprotein B. Alanine aminotransferase C. Hepatitis B core antibody (HBcAb) D. Hepatitis B core antigen (HBcAg) E. Hepatitis B e antigen (HBeAg) F. Hepatitis B surface antibody (HBsAb) G. Hepatitis B surface antigen (HBsAg) H. Hepatitis B RNA titre
G – Hepatitis B surface antigen (HBsAg)
If HBsAg is still detected in the serum 6 months after an acute HBV infection, the patient has become a chronic carrier of the virus. The risk of developing chronic HBV infection is related to age at the time of infection. The majority of infected neonates develop chronic infection, whereas only 5–10% of adults do so. Patients with chronic hepatitis B are at risk of developing cirrhosis, liver failure and hepatocellular carcinoma. The treatment of chronic hepatitis B can involve interferon-α, peginterferon-α2a, lamivudine and (in some patients) eventual liver transplantation.
This serological marker indicates high infectivity in a chronic hepatitis B carrier.
A. α-Fetoprotein B. Alanine aminotransferase C. Hepatitis B core antibody (HBcAb) D. Hepatitis B core antigen (HBcAg) E. Hepatitis B e antigen (HBeAg) F. Hepatitis B surface antibody (HBsAb) G. Hepatitis B surface antigen (HBsAg) H. Hepatitis B RNA titre
E – Hepatitis B e antigen (HBeAg)
HBeAg can be present in both acute and chronic hepatitis B and indicates a high level of infectivity. The presence of HBeAg in chronic hepatitis B suggests that the patient is infective and has an aggressive disease requiring treatment. In addition to establishing infectivity, measurement of HBeAg can be used to assess the efficacy of treatment, with falling levels indicating success. It should be noted that there are some mutant strains of HBV found in Asia and the Middle East that do not produce HBeAg. HBV DNA levels can also be used to assess disease activity, with high levels indicating active disease and infectivity.
This serological marker, if high, would indicate low infectivity in a chronic hepatitis B carrier.
A. α-Fetoprotein B. Alanine aminotransferase C. Hepatitis B core antibody (HBcAb) D. Hepatitis B core antigen (HBcAg) E. Hepatitis B e antigen (HBeAg) F. Hepatitis B surface antibody (HBsAb) G. Hepatitis B surface antigen (HBsAg) H. Hepatitis B RNA titre
C – Hepatitis B core antibody (HBcAb)
HBcAb can be present in acute and chronic infection. They are formed against the HBcAg, which is found only within the liver and therefore cannot be detected using serology. In acute infection, it is the second marker to be detected, after HBsAb, and is usually seen after 4 weeks of infection. In chronic disease, the presence of high titres of HBcAb, in the absence of HBeAg, indicates low infectivity and disease activity. This serological picture is associated with a better prognosis, with fewer individuals progressing to cirrhosis and hepatocellular carcinoma.
A 62-year-old woman presents with intermittent scalp pain. She says that the pain is specifically on the left side at the front and is worse when touching the area. She has no medical history. She is very tender over the affected area. Examination is otherwise unremarkable.
A. Cluster headache B. Coitus-induced headache C. Giant cell arteritis D. Ice-cream headache E. Idiopathic intracranial hypertension F. Meningitis G. Migraine H. Sagittal sinus thrombosis I. Sinusitis J. Space-occupying lesion K. Subarachnoid haemorrhage L. Tension headache M. Trigeminal neuralgia
M – Trigeminal neuralgia
Trigeminal neuralgia describes sharp, stabbing pains in the second and third divisions of the trigeminal nerve. The pain is severe, brief and repetitive, often causing the patient to flinch. (This feature gives rise to the French name for the condition ‘tic douloureux’ – painful twitch). The pain may often have triggers, such as touching or eating. Trigeminal neuralgia is most common in older women, and the condition has a tendency to improve and relapse. The underlying cause may be compression of the trigeminal nerve rootlets at their entry into the brain stem by aberrant loops of cerebellar arteries. Management options include carbamazepine, phenytoin or gabapentin, which can improve the neuropathic pain.
A 56-year-old woman complains of a hoarse voice and dry cough following a thyroidectomy. She is otherwise well
A. Agranulocytosis B. Angina C. Bilateral recurrent laryngeal nerve injury D. Bronchoconstriction E. Hyperthyroid storm F. Hypocalcaemia G. Hypothyroidism H. Laryngeal oedema I. Malignancy J. Unilateral recurrent laryngeal nerve injury
J – Unilateral recurrent laryngeal nerve palsy
The recurrent laryngeal nerve can be damaged during thyroidectomy via a number of mechanisms, including transection, infarction, diathermy burns and accidental ligation. Unilateral recurrent laryngeal nerve injury usually presents in the days following surgery with a hoarse voice and dyspnoea. In some cases, the symptoms will disappear after a few months. For those who do not recover, a number of surgical interventions are available. In total thyroidectomy, both laryngeal nerves can be damaged. This is a potentially life-threatening complication, since both vocal cords are paralysed, resulting in upper airway obstruction at extubation. If this is the case, the patient should be re-intubated and have their neck explored to assess the extent of any damage. If extubation continues to fail, the patient will require a tracheostomy. In the long term, surgical correction may allow the airway to be maintained without tracheostomy, but the voice will not recover.
A 45-year-old woman presents to her GP with lower abdominal pain, frequency of urination and pain on passing urine. She describes her urine as dark and offensive. The urine dipstick shows leucocytes, nitrites and blood.
A. Acute bacterial prostatitis B. Acute pyelonephritis C. Bacterial epididymo-orchitis D. Balanitis E. Chronic prostatitis F. Chronic pyelonephritis G. Escherichia coli cystitis H. Mumps epididymo-orchitis I. Proteus mirabilis urinary tract infection J. Renal tuberculosis K. Testicular torsion L. Testicular trauma M. Urinary tract obstruction
G – Escherichia coli cystitis
Cystitis usually presents with dysuria, frequency of urine, suprapubic discomfort and fever. Cystitis is much more common in women than in men due to the shorter urethra in women. Escherichia coli, usually found in the bowel, is the most common pathogen responsible for uncomplicated cystitis in the UK. Cystitis can be confirmed by the presence of leucocytes, nitrites and blood in the urine. A midstream urine (MSU) sample should be sent to microbiology for microscopy, culture and sensitivity. A positive culture is when more than 105 of a single organism are grown per millilitre of urine. The growth of mixed bacterial species usually indicates contamination of the sample. Antibiotic treatment should be guided by local patterns of bacterial resistance and MSU sensitivity results. Uncomplicated cystitis is usually treated with a 3- to 5-day course of trimethoprim. Other antibiotics that are used to treat cystitis include amoxicillin, ciprofloxacin, cefradine and nitrofurantoin. Patients who are susceptible to recurrent urinary tract infection can be prescribed prophylactic antibiotics (e.g. 100 mg of trimethoprim once nightly). Patients should be advised to drink lots of fluids and avoid dehydration. Urinary tract infections in men and children require further investigation
A 34-year-old woman has had frequent episodes of lower abdominal pain, urinary frequency and nocturia over the past few years. On all these occasions, the urine dipstick showed nitrites, blood and leucocytes. Today, she developed sudden-onset, severe right-sided loin pain and macroscopic haematuria. An X-ray on admission to hospital confirmed the presence of a ureteric calculus.
A. Acute bacterial prostatitis B. Acute pyelonephritis C. Bacterial epididymo-orchitis D. Balanitis E. Chronic prostatitis F. Chronic pyelonephritis G. Escherichia coli cystitis H. Mumps epididymo-orchitis I. Proteus mirabilis urinary tract infection J. Renal tuberculosis K. Testicular torsion L. Testicular trauma M. Urinary tract obstruction
I – Proteus mirabilis urinary tract infection
Proteus mirabilis is a Gram-negative anaerobic pathogen that can cause urinary tract infection. In addition, P. mirabilis infection causes the urine to become more alkaline, which predisposes to the development of urinary calculi. P. mirabilis infection is more common in patients with structural abnormalities of their urinary tract and in patients with long-term catheters.
A 68-year-old man is admitted to the emergency department with reduced consciousness. He has recently complained to his wife about passing large amounts of urine and excessive thirst. Investigation show a plasma blood glucose of 31.0 mmol/L, a potassium of 3.8 mmol/L, a sodium of 150 mmol/L, a urea of 16 mmol/L and a creatinine of 68 µmol/L.
A. Decrease insulin dose temporarily
B. Increase insulin dose temporarily
C. Intravenous bicarbonate
D. Intravenous glucose
E. Intravenous glucagon
F. Intravenous insulin with fluid resuscitation
G. Oral glucose
H. Rectal diazepam
I. Subcutaneous insulin with fluid resuscitation
J. Urgent referral to an endocrinologist
F – Intravenous insulin with fluid resuscitation
This patient has entered a hyperosmolar non-ketotic state (HONK). HONK is seen in people with type 2 diabetes, including previously undiagnosed patients. The event is usually triggered by an underlying illness, the ingestion of a high sugar load or the use of medications that cause a rise in plasma glucose (e.g. steroids). Patients usually present in a confused state, with a history of polyuria and polydipsia. The patient has a high plasma glucose, which can be in excess of 30 mmol/L. In HONK, the circulating insulin is sufficient to prevent ketogenesis but insufficient to allow the peripheral uptake and metabolism of glucose. Therefore the patient does not become acidotic. The hyperglycaemia causes an osmotic diuresis that rapidly dehydrates the patient and produces an extremely high plasma osmolality.
HONK is treated with a combination of intravenous fluid resuscitation and intravenous insulin. Care must be taken not to reduce the glucose levels or sodium concentration too rapidly, as the resultant osmotic shifts can result in fatal cerebral oedema. The insulin should therefore be started at a low rate (e.g. 3 units/h) and only isotonic (0.9%) saline should be prescribed. HONK also places the patient at high risk of thromboembolic events such as deep vein thrombosis, pulmonary embolism and stroke; therefore all patients should receive prophylactic heparin. The mortality rate of HONK approaches 30%, which is likely to be a reflection of the advanced age of many of the patients and the presence of underlying illness.
The mother of a 14-year-old type 1 diabetic boy phones the GP’s surgery asking for advice. Her son has a chest infection and is not eating. She is worried about his blood sugar levels.
A. Decrease insulin dose temporarily
B. Increase insulin dose temporarily
C. Intravenous bicarbonate
D. Intravenous glucose
E. Intravenous glucagon
F. Intravenous insulin with fluid resuscitation
G. Oral glucose
H. Rectal diazepam
I. Subcutaneous insulin with fluid resuscitation
J. Urgent referral to an endocrinologist
B – Increase insulin dose temporarily
Although this case does not represent a true diabetic emergency, the patient is at risk of deteriorating. As discussed above in Case 1, in the presence of illness, the patient’s insulin requirements increase even if they are not eating. If the insulin dose is lowered or remains the same, the patient may become ketoacidotic. The patient in this scenario should therefore be advised to increase his insulin dose temporarily and seek medical attention. Regular capillary blood glucose measurement is essential until an improvement is seen.
This dermatome supplies the back of the head
A. C1 B. C2 C. C4 D. C6 E. C7 F. C8 G. T4 H. T6 I. T10 J. L1 K. L3 L. L5 M. S1 N. S3 O. S5 P. Trigeminal nerve
B – C2
This dermatome supplies the perianal area.
A. C1 B. C2 C. C4 D. C6 E. C7 F. C8 G. T4 H. T6 I. T10 J. L1 K. L3 L. L5 M. S1 N. S3 O. S5 P. Trigeminal nerve
O – S5
A 56-year-old man presents to the GP with a 6-month history of worsening shortness of breath. Examination reveals bilateral endinspiratory crackles and clubbing. A chest X-ray shows reticulonodular shadowing, especially in the lower zones.
A. Acute coryza B. Asbestosis C. Aspergillosis D. Bronchiectasis E. Chronic obstructive pulmonary disease F. Cryptogenic fibrosing alveolitis G. Extrinsic allergic alveolitis H. Pneumoconiosis I. Sarcoidosis J. Tuberculosis
F – Cryptogenic fibrosing alveolitis
Cryptogenic fibrosing alveolitis (CFA) is a fibrosing alveolitis that is not associated with another disease. It is most common in older male smokers. CFA presents with exertional dyspnoea and a dry cough. Examination may reveal clubbing and bilateral end-inspiratory crepitations, especially at the lower zones. As disease progresses, central cyanosis and cor pulmonale develop. Chest X-ray demonstrates diffuse pulmonary opacities, or honeycombing in advanced disease. Pulmonary function tests show a restrictive defect (with a reduced vital capacity and reduced forced expiratory volume). The diagnosis is confirmed with high-resolution CT. Treatment is with prednisolone and azathioprine, although CFA tends to respond poorly. Death usually occurs within 5 years of diagnosis.
A 47-year-old man presents to the GP with a 4-month history of worsening shortness of breath. Examination reveals bilateral endinspiratory crackles. A chest X-ray shows reticulonodular shadowing, especially in the upper zones.
A. Acute coryza B. Asbestosis C. Aspergillosis D. Bronchiectasis E. Chronic obstructive pulmonary disease F. Cryptogenic fibrosing alveolitis G. Extrinsic allergic alveolitis H. Pneumoconiosis I. Sarcoidosis J. Tuberculosis
G – Extrinsic allergic alveolitis
Extrinsic allergic alveolitis is caused by the inhalation of organic dusts, resulting in an immune complex-mediated reaction with the formation of granulomas within the lung (and eventual lung fibrosis). Patients present with fever, muscle aches, cough, dyspnoea (no wheeze) and headaches. Examination reveals widespread end-inspiratory crepitations. Chest X-ray demonstrates micronodular shadowing, especially in the upper zones. Lung function tests confirm a restrictive defect. The diagnosis of extrinsic allergic alveolitis is made by demonstrating typical clinical and radiological features along with identifying the underlying allergen. Treatment is with prednisolone and requires avoidance of the precipitating allergen. Examples of allergens that cause extrinsic allergic alveolitis include:
- farmer’s lung: Aspergillus fumigatus in mouldy hay
- bird fancier’s lung: avium serum proteins found in bird droppings and feathers
- malt worker’s lung: A. clavatus in mouldy maltings.
A 32-year-old man has developed multiple painful ulcers on his penis, with an associated phimosis. On examination, there is inguinal lymph node enlargement and a discharging sinus. A culture demonstrates Haemophilus ducreyi.
A. Bacterial vaginosis B. Cervical cancer C. Chancroid D. Chlamydia infection E. Epstein–Barr virus F. Genital candidiasis G. Genital herpes H. Genital warts I. Gonorrhoea J. Granuloma inguinale (donovanosis) K. HIV L. Lymphogranuloma venereum M. Molluscum contagiosum N. Phthiriasis O. Reiter’s syndrome P. Scabies Q. Syphilis R. Trichomoniasis
C – Chancroid
Chancroid is caused by the Gram-negative bacterium Haemophilus ducreyi, and is found mostly in tropical countries. It is an ulcerative condition of the genitalia that develops within a week of exposure. Lesions begin as a small papule, which eventually ulcerates to form single or multiple, painful, superficial ulcers. Inflammation may lead to phimosis. Enlargement and suppuration of inguinal lymph nodes may occur, leading to a unilocular abscess (bubo) that can rupture to form a discharging sinus. Treatment is with appropriate antibiotics (e.g. erythromycin).
A 21-year-old female student presents with abdominal pain in the right upper quadrant. She has had multiple casual sexual partners with whom she used no barrier protection. When questioned further, she admits to having a burning sensation on passing urine.
A. Bacterial vaginosis B. Cervical cancer C. Chancroid D. Chlamydia infection E. Epstein–Barr virus F. Genital candidiasis G. Genital herpes H. Genital warts I. Gonorrhoea J. Granuloma inguinale (donovanosis) K. HIV L. Lymphogranuloma venereum M. Molluscum contagiosum N. Phthiriasis O. Reiter’s syndrome P. Scabies Q. Syphilis R. Trichomoniasis
D – Chlamydia infection
The right upper quadrant pain with non-specific urethritis in a girl with this history suggests chlamydial infection. Chlamydia infection is caused by the oculogenital serovars D–K of Chlamydia trachomatis. Infection tends to be asymptomatic, although there can be increased vaginal discharge, dysuria and urinary frequency. Ascending infection can cause salpingitis and, if it enters the abdominal cavity, perihepatitis (Fitz-Hugh–Curtis syndrome), which leads to right upper quadrant pain and tenderness. Chlamydia infection is a major cause of infertility and increases the possibility of a future ectopic pregnancy. In males, symptoms include mucopurulent discharge and dysuria, although it is asymptomatic in 25%. Epididymo-orchitis is a complication. Diagnosis of chlamydial infection is by urine antigen detection or vaginal swab culture. Treatment is with doxycycline.
Acute pelvic inflammatory disease is characterized by pelvic pain, pyrexia, cervical excitation, adnexal tenderness and a raised white cell count. It is most often caused by chlamydia infection and gonorrhoea.
A 75-year-old woman presents with sudden-onset pain in her right knee. On examination, the knee is swollen, red and painful. She has a temperature of 36.8°C. An X-ray of the knee shows a bright line on the surface of the meniscus
A. Ankylosing spondylitis B. Enteropathic arthritis C. Golfer’s elbow D. Gout E. Osteoarthritis F. Pseudogout G. Psoriatic arthritis H. Reiter’s syndrome I. Rheumatoid arthritis J. Septic arthritis K. Still’s disease L. Tennis elbow
F – Pseudogout
Calcium pyrophosphate deposition disease is caused by the deposition of calcium pyrophosphate dihydrate crystals in the joints. The crystals deposit along the cartilages, producing a linear chondrocalcinosis that is best seen on the meniscus on X-ray. Shedding of crystals into the joint precipitates an acute synovitis known as pseudogout. Patients present with acute-onset pain, swelling and redness in the affected joint. Pseudogout is most common in elderly women and usually affects the knee or wrist. The diagnosis is made by joint aspiration, demonstrating the weakly positively birefringent brick-shaped crystals of calcium pyrophosphate. The joint fluid should always be sent for culture to exclude a septic arthritis. The treatment of pseudogout is with nonsteroidal anti-inflammatory drugs (NSAIDs). The chondrocalcinosis itself cannot be treated.
A 30-year-old man presents with a 2-day history of left knee pain and a burning sensation on passing urine. On examination, his temperature is 37.2°C and you notice that his eyes are red.
A. Ankylosing spondylitis B. Enteropathic arthritis C. Golfer’s elbow D. Gout E. Osteoarthritis F. Pseudogout G. Psoriatic arthritis H. Reiter’s syndrome I. Rheumatoid arthritis J. Septic arthritis K. Still’s disease L. Tennis elbow
H – Reiter’s syndrome
The triad of arthritis, urethritis and iritis is indicative of Reiter’s syndrome.
A 6-month-old baby boy is brought to see the doctor by his mother. She is worried that he is becoming increasing floppy and can no longer lift his head. He is also finding it difficult to bottle-feed. On examination, although the baby lies flat and does not move much, he is obviously alert.
A. Ataxia telangiectasia B. Charcot–Marie–Tooth disease C. Guillain–Barré syndrome D. Hypokalaemia E. Lambert–Eaton syndrome F. Mononeuritis multiplex G. Motor neuron disease H. Multiple sclerosis I. Muscular dystrophy J. Myasthenia gravis K. Poliomyelitis L. Spinal cord compression M. Spinal muscular atrophy
M – Spinal muscular atrophy
Spinal muscular atrophy describes a group of genetic disorders affecting spinal and cranial motor neurons. There is degeneration of anterior horn cells, resulting in progressive proximal and distal weakness, wasting, and fasciculation (usually symmetrical). An example is Werdnig–Hoffmann disease: autosomal recessive severe muscle weakness, with death occurring by 12 months. Spinal muscular atrophy is the second most common cause of neuromuscular disease in the UK
A 6-year-old boy is brought in by his mother as he has had progressive difficulty walking over the last few months. He especially finds it difficult to stand up after he has been playing on the floor. On examination, his calves appear large. There is no sensory deficit.
A. Ataxia telangiectasia B. Charcot–Marie–Tooth disease C. Guillain–Barré syndrome D. Hypokalaemia E. Lambert–Eaton syndrome F. Mononeuritis multiplex G. Motor neuron disease H. Multiple sclerosis I. Muscular dystrophy J. Myasthenia gravis K. Poliomyelitis L. Spinal cord compression M. Spinal muscular atrophy
I - Muscular Dystrophy
Muscular dystrophy describes a group of inherited disorders with progressive degeneration of groups of muscles without involvement of the nervous system. It is characterized by symmetrical wasting and weakness, with no fasciculations or sensory loss. The most common muscular dystrophy is the Duchenne type, an X-linked recessive deficiency of the protein dystrophin, which is required to maintain the integrity of muscle cell walls. Duchenne muscular dystrophy begins in childhood and affects the proximal arms and legs. There is pseudohypertrophy of the calves (due to replacement of muscle by fibrosis and fat), a waddling gait and difficultly standing (children may ‘climb’ up their legs to help stand up – Gower’s sign). Death by respiratory failure or cardiomyopathy occurs in the early 20s. A diagnosis of muscular dystrophy is confirmed by electromyography and biopsy. Creatine kinase may also be elevated. Management of muscular dystrophy is supportive.
Other forms of muscular dystrophy include Becker muscular dystrophy (Xlinked recessive, with features similar to Duchenne muscular dystrophy but less severe, and with death occurring by the early 40s), myotonic dystrophy (autosomal dominant, weakness of temporal, facial, sternomastoid and distal limb muscles), fascioscapulohumeral dystrophy (autosomal dominant, affecting facial and shoulder girdle muscles) and limb girdle dystrophy (autosomal recessive, affecting pelvic and shoulder girdles).
A 47-year-old woman presents with difficulty writing and walking. Over the last week, she has had numbness and weakness of the first three digits of the right hand. She is on insulin for type 2 diabetes mellitus. On examination, there is a left-sided foot drop.
A. Ataxia telangiectasia B. Charcot–Marie–Tooth disease C. Guillain–Barré syndrome D. Hypokalaemia E. Lambert–Eaton syndrome F. Mononeuritis multiplex G. Motor neuron disease H. Multiple sclerosis I. Muscular dystrophy J. Myasthenia gravis K. Poliomyelitis L. Spinal cord compression M. Spinal muscular atrophy
F – Mononeuritis multiplex
Mononeuritis multiplex is a form of peripheral neuropathy where there is damage to at least two anatomically distinct peripheral or spinal nerves. There may be a variety of underlying pathologies, such as ischaemia or inflammation of the nerves. Common causes of mononeuritis multiplex include diabetes mellitus, polyarteritis nodosa, rheumatoid arthritis and systemic lupus erythematosus.
A 50-year-old man with type 2 diabetes is found to have retinal microaneurysms, haemorrhages and hard exudates on fundoscopy. He claims to have no visual impairment
A. Background retinopathy B. Cataract C. Glaucoma D. Hypertensive retinopathy E. Macular degeneration F. Macular oedema G. Pre-proliferative retinopathy H. Proliferative retinopathy I. Retinal detachment J. Vitreous haemorrhage
A – Background retinopathy
Diabetic eye disease is a serious microvascular complication of diabetes, and is the leading cause of blindness in the under-60 age group in the developed world. Background retinopathy is asymptomatic and is usually detected during the screening of diabetic patients. The pathological processes leading to retinopathy relate to increased retinal arterial blood flow secondary to hyperglycaemia, which results in the formation of microaneurysms, increased capillary permeability and retinal ischaemia. The pathognomonic changes of background retinopathy are blot haemorrhages, capillary microaneurysms (dots) and hard exudates, which appear as yellow plaques and contain lipid deposits. If a patient is shown to have background retinopathy, they must receive annual fundoscopy or diabetic photography to assess disease progression. If there is concern that disease is progressing, the patient should be reviewed again after 3 months. Each patient must undergo a holistic review of their glycaemic control, blood pressure, lipid profile and lifestyle. If the glycaemic control, hypertension and hyperlipidaemia are not corrected, the background retinopathy can progress to pre-proliferative and proliferative retinopathy, which is associated with a significant risk of blindness, vitreous haemorrhage and retinal detachment.
A 67-year-old woman with a long history of poorly controlled type 2 diabetes is having problems with her sight. Examination reveals reduced visual acuity. Fundoscopy demonstrates evidence of background retinopathy but no other pathology.
A. Background retinopathy B. Cataract C. Glaucoma D. Hypertensive retinopathy E. Macular degeneration F. Macular oedema G. Pre-proliferative retinopathy H. Proliferative retinopathy I. Retinal detachment J. Vitreous haemorrhage
F – Macular oedema
Diabetic maculopathy is most commonly seen in older patients with type 2 diabetes and is the leading cause of blindness in this group. Macular oedema cannot be seen on fundoscopy, but must always be suspected if the patient complains of deteriorating vision or if there is objective evidence of deteriorating visual acuity (i.e. using a Snellen chart). In addition to macular oedema, the macula can be affected by retinopathy, including the presence of haemorrhages, exudates and neovascularization. If maculopathy is suspected, the patient should be referred to an ophthalmologist for assessment and possible retinal photocoagulation therapy.
A 47-year-old man with type 1 diabetes presents to the emergency department with a sudden deterioration in the vision of his left eye associated with flashes and objects floating across his visual field. He describes the visual loss as a curtain moving across his visual field.
A. Background retinopathy B. Cataract C. Glaucoma D. Hypertensive retinopathy E. Macular degeneration F. Macular oedema G. Pre-proliferative retinopathy H. Proliferative retinopathy I. Retinal detachment J. Vitreous haemorrhage
I – Retinal detachment
Retinal detachment occurs when the outer pigment epithelium detaches from the inner retina, which contains the neurons. In patients with proliferative retinopathy, the retina detaches as a result of traction caused by the formation and deposition of fibrous bands. Patients complain of visual floaters, reduced visual acuity and visual field loss (often described as a curtain passing across their visual field). If the macula becomes detached, which usually occurs when the upper half of the retina detaches, the patient will suffer permanent damage to their central vision. On fundoscopy, the retina often appears grey and lifeless and bulges forward. If retinal detachment is suspected, the patient should be referred for urgent ophthalmological review.
You are asked to see a 68-year-old woman who had an anterior myocardial infarction 2 days ago. She has become acutely short of breath and is coughing up pink frothy sputum. On examination, her jugular venous pressure is raised and she has a systolic murmur. On auscultation, you can hear bilateral crackles at the lung bases.
A. First-degree heart block B. Acute mitral valve regurgitation C. Acute pericarditis D. Atrial ectopic beats E. Atrial fibrillation F. Cardiac tamponade G. Complete (third-degree) heart block H. Dressler’s syndrome I. Pulmonary embolism J. Subacute left ventricular failure K. Ventricular aneurysm L. Ventricular ectopic beats M. Ventricular tachycardia N. Ventricular wall rupture
B – Acute mitral valve regurgitation
Acute mitral regurgitation is usually seen 2–10 days after an inferior myocardial infarction (MI) and is often fatal. It is usually secondary to rupture of a papillary muscle or the chordae tendineae. It presents with symptoms and signs of acute left ventricular failure, including shortness of breath and the production of pink frothy sputum. On auscultation, there is a loud pansystolic murmur best herd at the apex that radiates into the axilla. The patient is usually haemodynamically compromised, with severe hypotension, low oxygen saturation and poor urine output. If the patient survives the initial period, a surgical opinion should be sought regarding possible repair/valve replacement.
A 66-year-old man, known to have had an anterior myocardial infarction 2 days previously, collapses. On examination, you notice that he has a raised jugular venous pressure that rises with inspiration. Auscultation seems normal. His blood pressure is 80/50 mmHg and his heart rate is 100 beats/min. The ECG shows sinus tachycardia with small QRS complexes.
A. First-degree heart block B. Acute mitral valve regurgitation C. Acute pericarditis D. Atrial ectopic beats E. Atrial fibrillation F. Cardiac tamponade G. Complete (third-degree) heart block H. Dressler’s syndrome I. Pulmonary embolism J. Subacute left ventricular failure K. Ventricular aneurysm L. Ventricular ectopic beats M. Ventricular tachycardia N. Ventricular wall rupture
F – Cardiac tamponade
In cardiac tamponade, there is rapid accumulation of fluid within the pericardial space, which compresses the heart, causing pump failure and cardiogenic shock. The patient is usually hypotensive, with distended neck veins and quiet heart sounds – features described by Beck’s triad (not to be confused with Beck’s cognitive triad: negative view of oneself, negative interpretation of past experiences and negative expectation of the future). Cardiac tamponade can be confirmed by echocardiography, but the rapidly fatal cardiogenic shock usually necessitates a clinical diagnosis and immediate treatment with pericardial aspiration by pericardiocentesis.
A 37-year-old woman presents with a bright-red nodule on the end of her index finger that bleeds easily. This lesion has grown rapidly in the last week and is now 1 cm in diameter
A. Cellulitis B. Erysipelas C. Ganglion D. Granuloma annulare E. Impetigo F. Kaposi’s sarcoma G. Necrotizing fasciitis H. Neurofibroma I. Pyogenic granuloma J. Sebaceous cyst K. Seborrhoeic keratosis
I – Pyogenic granuloma
A pyogenic granuloma is an acquired haemangioma (note that it is neither pyogenic nor a granuloma!) that occurs most often on the head, trunk, hands and feet. It develops at a site of trauma (e.g. a thorn prick) as a bright-red nodule that bleeds easily and enlarges rapidly over 2–3 weeks. It affects the young and old extremes of age, but is most common in pregnant women. These lesions are benign and are managed by excision, although smaller lesions may resolve spontaneously.
A 48-year-old woman attends the emergency department with pain and a rash on her left ear. This is associated with dizziness, vertigo and weakness of the left side of her face.
A. Benign paroxysmal positional vertigo B. Drug-induced ototoxicity C. Hyperventilation D. Labyrinthitis E. Ménière’s disease F. Multiple sclerosis G. Ramsay Hunt syndrome H. Posterior circulation stroke I. Trauma
G – Ramsay Hunt syndrome
Ramsay Hunt syndrome is caused by herpes zoster infection of the geniculate ganglion, affecting the facial nerve and sometimes the vestibulocochlear nerve, which is in close proximity. Features include paralysis of the facial muscles on the affected side, with a herpetic eruption on the ear canal. Patients may also suffer with tinnitus, hearing loss and vertigo. Oral aciclovir improves the prognosis and reduces the risk of post-herpetic neuralgia.
A 58-year-old man woke up in the night with sudden-onset severe dizziness and nausea. He got up, but found it difficult to walk down the stairs because of the dizziness. The symptoms were no worse in any particular position and there was no hearing loss.
A. Benign paroxysmal positional vertigo B. Drug-induced ototoxicity C. Hyperventilation D. Labyrinthitis E. Ménière’s disease F. Multiple sclerosis G. Ramsay Hunt syndrome H. Posterior circulation stroke I. Trauma
D – Labyrinthitis
Labyrinthitis (also known as vestibular neuronitis) is the most common cause of vertigo, and may be viral in origin. Patients present with explosive severe vertigo, vomiting and ataxia (without tinnitus and deafness). Symptoms settle down over a few days. Management is with antiemetics, often prochlorperazine.
A 36-year-old man presents with a 4-month history of worsening lower back pain and stiffness. The pain is worse in the morning, but gets better throughout the day. Examination is unremarkable.
A. Ankylosing spondylitis B. Enteropathic arthritis C. Golfer’s elbow D. Gout E. Osteoarthritis F. Pseudogout G. Psoriatic arthritis H. Reiter’s syndrome I. Rheumatoid arthritis J. Septic arthritis K. Still’s disease L. Tennis elbow
A – Ankylosing spondylitis
Ankylosing spondylitis (AS) is an inflammatory disorder of the back that is more common in males. Patients present with insidious-onset lower back pain and stiffness that is worse in the morning and gets better with exercise. There is poor spinal flexion, and in severe cases patients develop a rigid lower spine with a hunch (known as the ‘question mark posture’ or ‘hang dog posture’). AS may also affect the large joints asymmetrically. AS is associated with a number of extra-articular features, which are remembered by the ‘five As’: Apical lung fibrosis, Anterior uveitis, Achilles’ tendonitis/plantar fasciitis, Aortic regurgitation and Amyloidosis.
This diagnosis of AS is made using Schober’s test: two fingers are placed 10 cm apart on the lower back of the patient (5 cm above and below the L5 vertebra in the midline), and the patient is asked to flex. An increase between the fingers of <5 cm indicates spinal stiffness. X-ray of the hip shows blurred margins of the sacroiliac joints (sacroiliitis). Characteristic radiological features of the spine in AS include erosion of the corners of the vertebral bodies (Romanus lesions), the development of bony spurs (syndesmophytes) and calcification of the spinal ligaments (bamboo spine). Treatment options in AS are physiotherapy, exercise and slow-release NSAIDs, e.g. indometacin. Most patients manage to lead a normal life, although severe cases may impair ventilation.
AS is an example of a seronegative spondyloarthropathy, i.e. a disease associated with HLA-B27 that is characterized by a lack of rheumatoid factor (hence ‘seronegative’). Other spondyloarthropathies are psoriatic arthritis, Reiter’s disease and enteropathic arthritis.
A 3-year-old girl presents with a 2-week history of pain in her joints and muscles. She feels very unwell and is difficult to settle. On examination, she has a raised temperature.
A. Ankylosing spondylitis B. Enteropathic arthritis C. Golfer’s elbow D. Gout E. Osteoarthritis F. Pseudogout G. Psoriatic arthritis H. Reiter’s syndrome I. Rheumatoid arthritis J. Septic arthritis K. Still’s disease L. Tennis elbow
K – Still’s disease
Juvenile idiopathic arthritis (JIA) was previously referred to as juvenile chronic arthritis or juvenile rheumatoid arthritis. JIA is defined as joint inflammation persisting for 6 weeks or more, with initial onset in a person under 16 years of age, in the absence of another specific cause.
Pauciarticular JIA usually occurs in younger children, affecting the knees, ankles and wrists most commonly. Polyarticular JIA is more common in girls of all ages, usually symmetrically involving the hands and wrists. Complications of JIA include chronic anterior uveitis, flexion contraction of the joints and amyloidosis.
Still’s disease is a systemic form of juvenile arthritis that is thought to be an autoimmune disorder. It usually begins at the age of 3–4 years and is more common in girls. Features of Still’s disease include intermittent high pyrexia and a salmon-pink rash, with aches and pains of the joints and muscles. Other features are hepatosplenomegaly, lymphadenopathy and pericarditis. Inflammatory markers such as C-reactive protein are raised; however, antinuclear antibody and rheumatoid factor are usually negative. Management options include physiotherapy, resting splints, NSAIDs, disease-modifying drugs (e.g. methotrexate and ciclosporin) and steroids. The younger the age of onset of Still’s disease, the worse the prognosis.
Aspirin used to treat a 5-year-old boy with fever.
A. Agranulocytosis B. Bronchospasm C. Dry cough D. Dry mouth E. Nausea and vomiting F. Peripheral oedema G. Oculogyric crisis H. Reye’s syndrome I. Vomiting after alcohol
H – Reye’s syndrome
Reye’s syndrome is associated with aspirin use in children, and causes fatty infiltration of the liver and severe encephalopathy. Children can initially present with a mild illness, but often progress to coma. Treatment is directed at managing complications such as raised intracranial pressure and hypoglycaemia. This condition is fatal in up to 40% of cases. For this reason, aspirin should never be given to children.
A 26-year-old man presents with a 2-day history of feeling generally unwell and short of breath. Today, he started coughing up thick green sputum that had flecks of dry blood in. He complains of a sharp pain over the right side of his chest, which is worse on breathing in. Auscultation reveals bronchial breathing at the right base.
A. Acute coryza B. Asthma C. Bronchiectasis D. Chronic obstructive pulmonary disease E. Closed non-tension pneumothorax F. Cryptogenic fibrosing alveolitis G. Cystic fibrosis H. Extrinsic allergic alveolitis I. Open non-tension pneumothorax J. Pneumoconiosis K. Pneumonia L. Pulmonary embolism M. Sleep apnoea N. Tension pneumothorax
K – Pneumonia
Pneumonia is an acute respiratory illness with recent radiological pulmonary shadowing. A chest infection without chest X-ray changes is known as a lower respiratory tract infection. Community-acquired pneumonias are spread by droplet inhalation, and present with cough, fever and pleuritic chest pain. Cough is initially dry, but later becomes productive and may be blood stained. Examination reveals bronchial breath sounds in the affected area (due to consolidation) and coarse crepitations. Severity of pneumonia is assessed using the CURB-65 score.
The most common pathogens involved in community-acquired pneumonia are Streptococcus pneumoniae (30%), Mycoplasma pneumoniae, Staphylococcus aureus and Chlamydophila pneumoniae (previously known as Chlamydia pneumoniae). The resulting infection may be lobar pneumonia (homogeneous consolidation of one or more lobes) or bronchopneumonia (patchy alveolar consolidation that commonly affects both lower lobes). Investigations include chest X-ray and sputum culture. Treatment is with relevant antibiotics. Empirical regimens include oral amoxicillin for uncomplicated cases and intravenous clarithromycin plus co-amoxiclav for severe disease. Seven to ten days of treatment is normally sufficient.
A 16-year-old boy with a transplanted kidney is shown to have worsening renal function over the previous 2 weeks. He is complaining of pain around the transplanted kidney. He has had no significant complications since his transplant 4 months ago. An ultrasound scan of his transplanted kidney showed no significant abnormalities.
A. Angiography B. Cystoscopy C. DMSA scan D. End-stream urine sample for microscopy, culture and sensitivity E. Kidney–ureter–bladder X-ray F. Micturating cystourethrogram G. Midstream urine sample for microscopy, culture and sensitivity H. MRI I. Renal biopsy J. Renal tract ultrasound scan K. Three early morning urine samples for microscopy, culture and Ziehl–Neelsen staining L. Water deprivation test
I – Renal biopsy
Deteriorating renal function in a patient with a transplanted kidney should always be taken seriously, as there is a possibility of organ rejection. Other causes include vessel thrombosis, infection and recurrence of existing disease, e.g. immunoglobulin A (IgA) nephropathy. A percutaneous renal biopsy will reveal the presence, aetiology and severity of any rejection process. Acute rejection is usually treated with pulsed steroid therapy (methylprednisolone). In severe episodes of rejection, antithymocyte globulin, which destroys T lymphocytes, can be given to slow the rejection process. Chronic rejection is often due to the fibrosis of the microcirculation within the graft and is usually irreversible. Chronic rejection usually means that the patient is re-listed for transplantation.
A 68-year-old woman who is being investigated for altered bowel habit is found to have an Hb of 8.3 g/dL, an MCV of 67 fL, a low ferritin level and a raised total iron-binding capacity.
Α. α-Thalassaemia
B. β-Thalassaemia major
C. β-Thalassaemia trait
D. Anaemia of chronic disease
E. Autoimmune haemolytic anaemia
F. Glucose-6-phosphate dehydrogenase deficiency
G. Hereditary spherocytosis
H. Iron-deficiency anaemia secondary to gastrointestinal bleeding
I. Iron-deficiency anaemia secondary to iron malabsorption
J. Iron-deficiency anaemia secondary to menorrhagia
K. Megaloblastic macrocytic anaemia secondary to vitamin B12deficiency
L. Megaloblastic macrocytic anaemia secondary to folate deficiency
M. Megaloblastic microcytic anaemia secondary to vitamin B12 deficiency
N. Normal variant
O. Sickle cell anaemia
H – Iron-deficiency anaemia secondary to gastrointestinal bleeding
Iron-deficiency anaemia (IDA) is defined as a haemoglobin concentration below 13.5 g/dL in males or 11.5 g/dL in females, in association with a low MCV and evidence of depleted iron stores (i.e. a low ferritin and a raised total ironbinding capacity). In the developed world, IDA is usually secondary to chronic blood loss from gastrointestinal, uterine and urinary tract sources. (Worldwide, hookworm infection and schistosomiasis are common causes.) In cases where the source of bleeding is obvious, further investigation is usually not necessary and treatment can begin. However, in many instances, bleeding goes unnoticed and is secondary to a more sinister cause such as gastrointestinal malignancy. Therefore, patients with IDA without an obvious cause must be referred for investigation of the upper and lower gastrointestinal tracts in the first instance.
To treat IDA, the underlying cause must be corrected and iron stores replenished. The most appropriate method of replacing iron is with oral supplementation
A 24-year-old woman with active Crohn’s disease is shown to have an Hb of 9.5 g/dL, an MCV of 101 fL and a normal ferritin level. A peripheral blood film shows a number of hypersegmented neutrophils.
Α. α-Thalassaemia
B. β-Thalassaemia major
C. β-Thalassaemia trait
D. Anaemia of chronic disease
E. Autoimmune haemolytic anaemia
F. Glucose-6-phosphate dehydrogenase deficiency
G. Hereditary spherocytosis
H. Iron-deficiency anaemia secondary to gastrointestinal bleeding
I. Iron-deficiency anaemia secondary to iron malabsorption
J. Iron-deficiency anaemia secondary to menorrhagia
K. Megaloblastic macrocytic anaemia secondary to vitamin B12deficiency
L. Megaloblastic macrocytic anaemia secondary to folate deficiency
M. Megaloblastic microcytic anaemia secondary to vitamin B12 deficiency
N. Normal variant
O. Sickle cell anaemia
K – Megaloblastic macrocytic anaemia secondary to vitamin B12 deficiency
Vitamin B 12 is an essential water-soluble vitamin required for DNA synthesis and red blood cell production. It is absorbed in the terminal ileum only after binding intrinsic factor, which is secreted by gastric parietal cells. The liver is able to store approximately 1 mg of vitamin B12, which is sufficient for 3–4 years; hence vitamin B12 deficiency takes years to manifest. The main causes of vitamin B 12 deficiency are pernicious anaemia, poor dietary intake (vegans) and malabsorption secondary to disease of the terminal ileum. Pernicious anaemia describes the autoimmune loss of parietal cells and/or intrinsic factor, thus preventing the absorption of vitamin B12. It is most common in women over 60 years. Around 90% of patients demonstrate antiparietal antibodies (but some normal women also have these) and 60% are found to have anti-intrinsic factor antibody (which is a more specific marker).
Patients with bowel pathology, such as Crohn’s disease (this scenario), have normal levels of intrinsic factor but cannot absorb the vitamin B 12–intrinsic factor complex due to disease of the terminal ileum. Although most patents with pernicious anaemia complain of lethargy and general malaise, specific features of vitamin B 12 deficiency include peripheral neuropathy, smooth tongue, angular stomatitis, depression, dementia and subacute degeneration of the spinal cord. The blood film is likely to show a macrocytic megaloblastic anaemia with hypersegmented neutrophil nuclei (>6 lobes). In addition, serum vitamin B 12 levels are low and ferritin levels are normal, reflecting normal iron stores.
A previously well 8-month-old baby boy becomes generally unwell. His health visitor notices that he is failing to thrive. Investigation shows a microcytic, hypochromic anaemia in association with high levels of HbF and HbA 2
Α. α-Thalassaemia
B. β-Thalassaemia major
C. β-Thalassaemia trait
D. Anaemia of chronic disease
E. Autoimmune haemolytic anaemia
F. Glucose-6-phosphate dehydrogenase deficiency
G. Hereditary spherocytosis
H. Iron-deficiency anaemia secondary to gastrointestinal bleeding
I. Iron-deficiency anaemia secondary to iron malabsorption
J. Iron-deficiency anaemia secondary to menorrhagia
K. Megaloblastic macrocytic anaemia secondary to vitamin B12deficiency
L. Megaloblastic macrocytic anaemia secondary to folate deficiency
M. Megaloblastic microcytic anaemia secondary to vitamin B12 deficiency
N. Normal variant
O. Sickle cell anaemia
B – β-Thalassaemia major
β-Thalassaemia major is an autosomal recessive disorder in which there is a complete lack of production of the haemoglobin β-globin chain. It occurs mainly in Mediterranean and Middle Eastern families and is due to a point mutation on chromosome 11. Because patients with β-thalassaemia major have mutations on both alleles and cannot synthesize any β-globin, they cannot produce functioning adult haemoglobin (HbA: α2β2). This condition typically presents within the first year of life when the production of fetal haemoglobin (HbF: α2γ2) begins to fall. Affected children become generally unwell and fail to thrive secondary to a severe microcytic anaemia. Ferritin levels are normal since there is no iron deficiency. A compensatory increase in the synthesis of HbF and haemoglobin A2 (HbA2: α2δ2) occurs, which can be detected on serum electrophoresis.
Clinical features include failure to thrive, lethargy, pallor and jaundice. On examination, there is often hepatosplenomegaly (secondary to extramedullary haematopoiesis), with bossing of the skull and long bone deformity (due to excessive intramedullary haematopoiesis). The treatment of β-thalassaemia major is with regular blood transfusions, aiming to maintain the haemoglobin concentration above 10 g/dL, or with allogeneic bone marrow transplantation. Regular iron chelation therapy (with desferrioxamine) is required to prevent iron overload and deposition in vital organs such as the heart, liver and endocrine glands. If untreated, death is inevitable in the first years of life.
A 25-year-old woman presents to the clinic with a slowly enlarging lump on the left side of her neck. She denies any other symptoms. On examination, there is a 2 cm, smooth, regular, firm lump that moves up with swallowing, but not with tongue protrusion. Lymph nodes are palpable in the left side of the neck.
A. Anaplastic carcinoma B. De Quervain’s thyroiditis C. Follicular carcinoma D. Graves’ disease E. Hashimoto’s thyroiditis F. Haemorrhage into a cyst G. Medullary carcinoma H. Papillary carcinoma I. Riedel’s thyroiditis J. Struma ovarii K. Toxic multinodular goitre
H – Papillary carcinoma
The majority (70%) of thyroid tumours are papillary adenocarcinomas; 20% are follicular carcinomas. Both of these tumours occur most commonly in adolescents and young adults, who present with a discrete thyroid nodule. Papillary tumours may be multifocal and they spread to lymph nodes (as in this case). Follicular tumours occur as a single encapsulated lesion, and they spread via blood to the lungs and bone. Treatment is by total thyroidectomy (except for tumours <1 cm, which can be treated by a thyroid lobectomy). Papillary and follicular carcinomas may be thyroid-stimulating hormone (TSH) dependent (i.e. the presence of TSH stimulates their growth). For this reason, after thyroid surgery, patients take lifelong thyroxine, in order to suppress endogenous TSH secretion and reduce the risk of recurrence.
A 54-year-old man presents to the clinic with a midline neck mass that has been increasing in size over a few months. On examination, the thyroid gland is enlarged, firm and irregular, although the patient does not complain of any pain. No cervical nodes are palpable. A core biopsy is taken, and the histology report denies the presence of malignancy.
A. Anaplastic carcinoma B. De Quervain’s thyroiditis C. Follicular carcinoma D. Graves’ disease E. Hashimoto’s thyroiditis F. Haemorrhage into a cyst G. Medullary carcinoma H. Papillary carcinoma I. Riedel’s thyroiditis J. Struma ovarii K. Toxic multinodular goitre
I – Reidel’s thyroiditis
Reidel’s thyroiditis is characterized by idiopathic fibrosis of the thyroid gland. Patients present with a slowly growing goitre that is firm and irregular, and for this reason it is difficult to distinguish from cancer without a biopsy. Initially, thyroid function tests are normal, but 30% of affected patients will develop hypothyroidism and hypoparathyroidism. Complications of the fibrosis include tracheal/oesophageal compression and recurrent laryngeal nerve palsy. There is no treatment for Reidel’s thyroiditis, but palliative surgery can be performed if there are compressive symptoms (e.g. dysphagia or stridor).
An 84-year-old woman presents with a lump in her neck that was first noticed last month and has since been growing rapidly. On further questioning, she admits to having problems swallowing her food. On examination, there is a 5 cm, irregular, hard mass on the left side, which is fixed to the overlying skin.
A. Anaplastic carcinoma B. De Quervain’s thyroiditis C. Follicular carcinoma D. Graves’ disease E. Hashimoto’s thyroiditis F. Haemorrhage into a cyst G. Medullary carcinoma H. Papillary carcinoma I. Riedel’s thyroiditis J. Struma ovarii K. Toxic multinodular goitre
A – Anaplastic carcinoma
This woman has anaplastic carcinoma as indicated by her advanced age and acute presentation. Anaplastic carcinoma accounts for <5% of thyroid tumours but is the most aggressive. It presents in older patients with a hard, symmetrical, rapidly enlarging goitre. Spread is to lymph nodes and local structures, e.g. the trachea (resulting in stridor) and the recurrent laryngeal nerve (leading to hoarseness). There is no effective treatment for anaplastic thyroid tumours, although palliative radiotherapy or debulking surgery can be performed if there is tracheal compression. Most patients (>90%) with anaplastic carcinoma are dead within 1 year.
A 55-year-old woman is noted to have an elevated blood pressure on three separate occasions by her GP. She has a recent history of persisting acne and hirsutism, for which a dermatology referral has been made. Marked bruising is observed on examination.
A. Acromegaly B. Adult polycystic disease C. Aortic dissection D. Berry aneurysm E. Coarctation of the aorta F. Conn’s syndrome G. Cushing’s disease H. Non-steroidal anti-inflammatory drug use I. Oral contraception J. Phaeochromocytoma K. Pre-eclampsia L. Stress at work M. White coat syndrome
G – Cushing’s disease
Adrenocorticotropic hormone (ACTH; also known as corticotropin) is secreted from the anterior pituitary gland in response to corticotropin-releasing hormone (CRH) from the hypothalamus. ACTH acts on the adrenal cortex to stimulate the release of glucocorticoids and androgens into the circulation. In Cushing’s disease, a pituitary adenoma secretes large amounts of ACTH into the circulation, causing uninhibited glucocorticoid secretion. Patients with glucocorticoid and androgen excess suffer from Cushing’s syndrome, which consists of a vast array of clinical features, including hypertension, central weight gain, a moon face, poor quality skin, bruising, poor wound healing, hirsutism, acne, abdominal striae, oligomenorrhoea, osteoporosis, hyperglycaemia, polyuria, polydipsia, myopathy, depression and psychosis.
Cushing’s syndrome can also be caused by iatrogenic steroid prescriptions or the presence of an ectopic ACTH-secreting tumour such as a small cell lung carcinoma. Treatment of Cushing’s syndrome requires correction of the underlying condition (e.g. removal of the pituitary adenoma in Cushing’s disease) and management of any complications such as hypertension. In cases of iatrogenic disease caused by excess steroid therapy, the offending drug should be gradually reduced over a number of weeks and replaced by an alternative ‘steroid-sparing’ drug (e.g. the immunosuppressant azathioprine).
A 58-year-old man complains of left-sided chest discomfort that has been progressing over the last fortnight. He is otherwise well. On examination, the left lower lobe is dull to percussion, and a chest Xray confirms a left-sided pleural effusion. A pleural tap is performed and reveals blood-stained fluid.
A. Bronchoscopy and biopsy B. Chest X-ray C. CT pulmonary angiography D. D-dimers E. Lung function tests F. Kveim–Siltzbach test G. Mantoux test H. No investigation required I. Pleural biopsy J. Sputum culture K. Sweat test L. Ventilation–perfusion scan
I – Pleural biopsy
Mesothelioma is a malignant tumour of the pleura. The effusion of mesothelioma tends to be blood stained, but the definitive diagnosis is made by pleural biopsy
A 25-year-old man is taken to theatre after fracturing his hip in a motorbike accident. Postoperatively, it is noticed that he is unable to flex his left foot either up or down. There is no sensation below the left knee except over the medial aspect of the leg.
A. Common peroneal nerve B. Femoral nerve C. Lateral femoral cutaneous nerve D. Lateral plantar nerve E. Medial plantar nerve F. Obturator nerve G. Sciatic nerve H. Saphenous nerve I. Sural nerve J. Tibial nerve
G – Sciatic nerve
The sciatic nerve can be damaged with fracture dislocations of the hip or by misplaced gluteal injections. Sciatic nerve palsy results in paralysis of the hamstrings and all the muscles of the leg and foot. Sensation is lost below the knee, except for the medial leg (supplied by the saphenous nerve, a branch of the femoral nerve) and the upper calf (supplied by the posterior femoral cutaneous nerve).
A 28-year-old woman is involved in a road traffic collision. Her right knee had hit the dashboard of the car. On arrival at the emergency department, she is unable to flex her toes on the right side. Examination reveals an absence of the ankle jerk and loss of sensation over the sole of the foot.
A. Common peroneal nerve B. Femoral nerve C. Lateral femoral cutaneous nerve D. Lateral plantar nerve E. Medial plantar nerve F. Obturator nerve G. Sciatic nerve H. Saphenous nerve I. Sural nerve J. Tibial nerve
J – Tibial nerve
The tibial nerve is particularly vulnerable to damage during posterior dislocations of the knee. It can also be compressed in the posterior tarsal tunnel behind the medial malleolus. A branch of the sciatic nerve, the tibial nerve supplies the flexor compartment of the leg (calf muscles). It also gives rise to the medial and lateral plantar nerves, which supply the intrinsic muscles of the foot as well as plantar sensation. Tibial nerve palsy results in loss of toe flexion, ankle inversion and the ankle jerk. Sensation over the plantar surface of the foot is lost. Affected patients walk with a shuffling gait, as the take-off phase of walking is impaired. There is loss of the lateral longitudinal arch of the foot, and atrophy of the intrinsic foot muscles eventually results in a claw foot.
A 16-year-old boy was previously admitted to the orthopaedic ward with an ankle fracture, which was treated with a plaster cast. When the cast is removed, the boy is unable to dorsiflex his foot.
A. Common peroneal nerve B. Femoral nerve C. Lateral femoral cutaneous nerve D. Lateral plantar nerve E. Medial plantar nerve F. Obturator nerve G. Sciatic nerve H. Saphenous nerve I. Sural nerve J. Tibial nerve
A – Common peroneal nerve
The common peroneal nerve (or common fibular nerve) is a branch of the sciatic nerve that supplies the dorsiflexors and evertor muscles of the foot and sensation to the lateral lower leg and upper foot. The common peroneal nerve lies in close proximity to the fibula, and may become trapped by below-knee plaster casts or damaged with fibular fractures. Features of common peroneal nerve lesions include lack of dorsiflexion (with a resulting foot drop) and loss of sensation in the anterolateral lower leg and dorsum of the foot (except for the lateral aspect of the foot, which is supplied by the sural nerve). The inability to dorsiflex the foot will result in a ‘high-stepping’ gait to ensure that the foot is not scraped along the ground.
You are called to see a 43-year-old woman following an open cholecystectomy. She is making noises but no understandable words. Her eyes open in response to speech and she withdraws appropriately from painful stimuli.
What’s the GCS?
9 - This woman is opening her eyes in response to speech (E3), is making noises but no words (V2) and withdraws from painful stimuli (M4): GCS = 3 + 2 + 4 = 9.
A 12-year-old girl presents with jaundice. Her mother says that she has been behaving differently over the last few weeks. Investigation shows deranged liver function tests, and an ultrasound scan confirms cirrhotic changes within the liver.
A. α1-Antitrypsin level B. α-Fetoprotein C. Antimitochondrial antibody D. Antinuclear antibodies E. Ceruloplasmin level F. Cytomegalovirus PCR G. Hepatitis A antigen H. Hepatitis A IgG I. Hepatitis A IgM J. Hepatitis C RNA K. Hepatitis C antibody L. Total iron-binding capacity
E – Ceruloplasmin level
Wilson’s disease is an autosomal recessive disease of copper metabolism. In health, copper is transported in the serum bound to ceruloplasmin (ferroxidase) and is excreted in the bile. In Wilson’s disease, there is a defect in copper metabolism such that it is not excreted in the bile and instead accumulates in the tissues. This process suppresses the synthesis of ceruloplasmin, which allows unbound (free) copper to enter the circulation. The high levels of free serum copper accumulate in vital organs such as the liver (resulting in cirrhosis), eye (causing Keiser–Fleischer rings), kidney and basal ganglia of the brain (leading to personality changes). If left untreated, the patient is at risk of developing cirrhosis, renal tubular disease, neurological disease and neuropsychiatric complications. Patients with Wilson’s disease have elevated serum free copper, urinary copper and hepatic copper (via biopsy). Paradoxically, total serum copper is usually low.
A 42-year-old woman presents with a 4-week history of generalized itching. She has developed yellow lesions in the skin around her eyes. Blood tests reveal deranged liver function tests.
A. α1-Antitrypsin level B. α-Fetoprotein C. Antimitochondrial antibody D. Antinuclear antibodies E. Ceruloplasmin level F. Cytomegalovirus PCR G. Hepatitis A antigen H. Hepatitis A IgG I. Hepatitis A IgM J. Hepatitis C RNA K. Hepatitis C antibody L. Total iron-binding capacity
C – Antimitochondrial antibody
Primary biliary cirrhosis is thought to be an autoimmune disease in which chronic granulomatous inflammation of the interlobular bile ducts causes cirrhosis, portal hypertension and liver failure. It tends to affect middle-aged women, who usually present with pruritis and deranged liver function tests. Xanthelasmas are a recognized feature (as in this case). Up to 98% of patients with primary biliary cirrhosis are positive for the highly specific antimitochondrial antibody M2 subtype. Other investigations used to diagnose primary biliary cirrhosis include hepatic ultrasound imaging, endoscopic retrograde cholangiopancreatography (ERCP) and liver biopsy. The treatment of primary biliary cirrhosis is largely symptomatic. Cholestyramine is used to treat pruritis, and ursodeoxycholic acid may improve ascites and jaundice but is unlikely to prolong life. Without liver transplantation, most patients will die approximately 2 years after the development of jaundice.
A 32-year-old man has recently returned from holiday in India, where he stayed with locals and dined with them. Two weeks later, he presents with jaundice and lethargy. Liver function tests reveal a massively raised ALT and a significantly raised bilirubin.
A. α1-Antitrypsin level B. α-Fetoprotein C. Antimitochondrial antibody D. Antinuclear antibodies E. Ceruloplasmin level F. Cytomegalovirus PCR G. Hepatitis A antigen H. Hepatitis A IgG I. Hepatitis A IgM J. Hepatitis C RNA K. Hepatitis C antibody L. Total iron-binding capacity
I – Hepatitis A IgM
Hepatitis A is caused by an RNA virus that is transmitted by the faecal–oral route. It often presents with a non-specific lethargic illness that is followed by the development of jaundice. The earliest serological marker of acute infection is hepatitis A immunoglobulin M (IgM) antibody. Hepatitis A IgG antibodies develop later in the course of the disease, and remain for many years. Hepatitis IgG antibodies usually convey immunity to the disease.
A 27-year-old nurse sustained a needlestick injury 4 months ago. She attends an occupational health appointment, where a blood test is done to exclude hepatitis C infection.
A. α1-Antitrypsin level B. α-Fetoprotein C. Antimitochondrial antibody D. Antinuclear antibodies E. Ceruloplasmin level F. Cytomegalovirus PCR G. Hepatitis A antigen H. Hepatitis A IgG I. Hepatitis A IgM J. Hepatitis C RNA K. Hepatitis C antibody L. Total iron-binding capacity
K – Hepatitis C antibody
Hepatitis C is caused by an RNA virus that is transmitted through sexual activities and blood products, including the sharing of needles among intravenous drug users. The acute infection is often silent, with many individuals being completely asymptomatic. Hepatitis C antibodies can be used to diagnose previous infection, but take up to 3 months to develop. Approximately 85% of patients with acute hepatitis C infection go on to become chronic carriers, which carries a significant risk of developing cirrhosis, liver failure and hepatocellular carcinoma.
A 60-year-old woman with chronic renal failure mentions that she is becoming more generally lethargic. Blood tests show a calcium of 1.73 mmol/L, a phosphate of 2.7 mmol/L and an albumin of 45 g/L.
A. Advise exercise B. Alfacalcidol C. Intravenous bisphosphonate infusion D. Intravenous calcium gluconate E. Intravenous erythropoietin F. Iron sulphate supplementation G. Low-potassium diet H. Oral ACE inhibitor and fluid restriction I. Oral calcium channel blocker and fluid restriction J. Oral erythropoietin K. Phosphate supplements L. Statin therapy M. Stop phosphate binders N. Urgent dialysis
B – Alfacalcidol
This patient is hypocalcaemic. Hypocalcaemia in chronic renal failure is due to reduced synthesis of vitamin D. In health, cholecalciferol is formed within the skin in response to sunlight. Cholecalciferol is hydroxylated in the liver to form 25-hydroxycholecalciferol, which is then hydroxylated again in the kidney by 1α-hydroxylase to form 1,25-dihydroxycholecalciferol. This is the active form of vitamin D, which increases the absorption of calcium from the gastrointestinal tract, increases the reabsorption of calcium and phosphate from the kidneys, and reduces parathyroid hormone secretion. The hypocalcaemia of renal failure is treated by supplementing the active form of vitamin D with calcitriol (1,25- dihydroxycholecalciferol) and alfacalcidol (1-hydroxycholecalciferol).
A 45-year-old man with chronic renal failure is found to have a blood pressure of 180/95 mmHg during an outpatient assessment. On reviewing the records, it is apparent that his blood pressure has been climbing for a number of weeks.
A. Advise exercise B. Alfacalcidol C. Intravenous bisphosphonate infusion D. Intravenous calcium gluconate E. Intravenous erythropoietin F. Iron sulphate supplementation G. Low-potassium diet H. Oral ACE inhibitor and fluid restriction I. Oral calcium channel blocker and fluid restriction J. Oral erythropoietin K. Phosphate supplements L. Statin therapy M. Stop phosphate binders N. Urgent dialysis
I – Oral calcium channel blocker and fluid restriction
Hypertension is an important and common complication of chronic renal failure. Hypertension is largely due to fluid retention, although increased renin secretion may play a role, especially when renal vascular disease is present. Fluid restriction may be enough to reduce the patient’s blood pressure. Oral antihypertensive agents such as calcium channel blockers or β-blockers may also be prescribed. Caution should be taken in prescribing ACE inhibitors, as they can worsen renal failure and promote hyperkalaemia. In patients receiving dialysis, the regimen can be altered to remove fluid as well as waste products in a process known as ultrafiltration.
A 44-year-old woman presents following a faint after standing up from a sitting position. She did not lose consciousness during this episode, but merely reported feeling ‘dizzy and lightheaded’. She has no significant past medical history. On examination, you notice multiple areas of skin depigmentation but increased pigmentation in the palmar creases and on the elbows.
A. 17-Hydroxyprogesterone levels
B. 24-hour urinary vanillylmandelic acid
C. 24-hour urinary 5-hydroxyindole acetic acid
D. Aldosterone and renin levels
E. Dexamethasone suppression test
F. Parathyroid hormone and calcium levels
G. Serum calcitonin
H. Short Synacthen test
I. Vitamin D levels
H – Short Synacthen test
This woman presents with postural hypotension. She has vitiligo and some areas of increased skin pigmentation, making her likely to have Addison’s disease. The best investigation to perform is the short Synacthen test.
Addison’s disease is primary autoimmune-mediated adrenocortical failure. The action of the adrenal cortex can be described in simplified terms as the secretion of three things: glucocorticoids, mineralocorticoids and adrenal androgens. These usually feed back to the anterior pituitary to reduce ACTH (adrenocorticotropic hormone, also known as corticotropin) secretion. Therefore, failure of the adrenal cortex has many consequences: reduced glucocorticoids (leading to hypoglycaemia and weight loss), reduced mineralocorticoids (leading to hyperkalaemia, hyponatraemia and hypotension), reduced adrenal androgens (leading to decreased body hair and libido) and ACTH excess (leading to increased pigmentation in sun-exposed areas, pressure areas, palmar creases, buccal mucosa and recent scars). The diagnosis of Addison’s disease is by the short Synacthen test. In this investigation, plasma cortisol levels are measured before and half an hour after administration of a single intramuscular dose of ACTH. Normally, the ACTH will result in a rise in cortisol. If there is no rise in cortisol on the second reading, adrenal insufficiency is indicated.
Management of Addison’s disease is with the replacement of glucocorticoids and mineralocorticoids (with hydrocortisone and fludrocortisone).
A 5-year-old girl is referred to the paediatric clinic by her GP with precocious puberty. On examination, she is found to have clitoromegaly and some pubic hair. She is above the 98th centile for height and weight.
A. 17-Hydroxyprogesterone levels
B. 24-hour urinary vanillylmandelic acid
C. 24-hour urinary 5-hydroxyindole acetic acid
D. Aldosterone and renin levels
E. Dexamethasone suppression test
F. Parathyroid hormone and calcium levels
G. Serum calcitonin
H. Short Synacthen test
I. Vitamin D levels
A - 17-Hydroxyprogesterone levels
The presentation of clitoromegaly, precocious puberty and accelerated growth in this young girl is indicative of congenital adrenal hyperplasia (CAH). This is an autosomal recessive deficiency of the enzyme 21-hydroxylase. This enzyme is required to synthesize mineralocorticoids and glucocorticoids (but not adrenal androgens) from the hormone precursor 17-hydroxyprogesterone. Because there is a lack of mineralocorticoids and glucocorticoids, there is no negative feedback on the anterior pituitary, resulting in increased ACTH secretion. The high ACTH then causes an increased secretion of adrenal androgens, since this does not require the deficient hormone. The androgens result in the physical features of CAH, namely ambiguous genitalia (in girls), precocious puberty (in girls), accelerated growth in childhood and virilization. The diagnosis of CAH is suggested by finding a raised concentration of the precursor 17- hydroxyprogesterone. Treatment is with hydrocortisone and fludrocortisone to replace the deficient steroids
A 50-year-old man attends the emergency department complaining of episodes of flushing and diarrhoea associated with difficulty in breathing. On further questioning, you find that these episodes are precipitated by stress and alcohol. On examination, his blood pressure is 130/86 mmHg and his heart rate is 82 beats/min.
A. 17-Hydroxyprogesterone levels
B. 24-hour urinary vanillylmandelic acid
C. 24-hour urinary 5-hydroxyindole acetic acid
D. Aldosterone and renin levels
E. Dexamethasone suppression test
F. Parathyroid hormone and calcium levels
G. Serum calcitonin
H. Short Synacthen test
I. Vitamin D levels
C - 24-hour urinary 5-hydroxyindole acetic acid
The features of paroxysmal flushing, diarrhoea, bronchospasm and abdominal pain precipitated by stress, alcohol and caffeine strongly suggest carcinoid syndrome.
Carcinoid tumours are tumours of enterochromaffin cells of the gastrointestinal tract (most commonly of the appendix, ileum or rectum) that secrete serotonin (5-hydroxytryptamine, 5-HT). The secreted 5-HT is carried from the bowel, via the portal vein, to the liver, where it is harmlessly broken down. However, when carcinoid tumours metastasize to the liver, they can secrete 5-HT directly into the bloodstream, bypassing liver metabolism and resulting in the symptoms described above. The presence of carcinoid metastases in the liver that result in symptoms is known as carcinoid syndrome. The diagnosis of carcinoid syndrome is by measuring 24-hour urinary 5-hydroxyindole acetic acid (5-HIAA), a breakdown product of 5-HT. Management is by resection or, in widespread disease, symptomatic treatment with octreotide (a somatostatin analogue that inhibits 5-HT release). Carcinoid tumours are slow growing so, even if disseminated disease is present, patients can live for many years.
A 48-year-old man is brought to the GP by his wife. She says that he has been confused over the last 7 days and has been falling over a lot. Examination reveals a nystagmus but no other neurological signs.
A. Alzheimer’s disease B. Creutzfeldt–Jakob disease C. Depressive pseudodementia D. HIV dementia E. Huntington’s disease F. Lewy body dementia G. Neurosyphilis H. Normal-pressure hydrocephalus I. Parkinson’s disease J. Pick’s disease K. Vascular dementia L. Wernicke’s encephalopathy
L – Wernicke’s encephalopathy
Wernicke’s encephalopathy is a reversible condition caused by a severe deficiency of thiamine (vitamin B1). It is often associated with alcohol abuse, the processes involved being a lack of adequate oral intake, hyperemesis and malabsorption caused by gastrointestinal lesions. The triad of features in Wernicke’s syndrome is confusion, ataxia and nystagmus. Ophthalmoplegia is also an important feature. If untreated, Wernicke’s encephalopathy can lead to the irreversible Korsakoff’s syndrome, characterized by confusion, anterograde and retrograde amnesia, and confabulation.
A 67-year-old man presents with symptoms of acute left ventricular failure. On examination, you notice that his heart rate is 120 beats/ min. On auscultation, there are more than two heart sounds present, but you cannot distinguish them from each other.
A. Austin Flint murmur
B. Continuous murmur radiating to the back
C. Ejection systolic murmur heard at the right second intercostal space only
D. Ejection systolic murmur heard best in the right second intercostal space that radiates into the right carotid artery
E. Graham Steell murmur
F. Muffled heart sounds
G. Mid-diastolic click loudest at the apex
H. Midsystolic murmur
I. Normal heart sounds
J. Opening snap best heard at the apex
K. Pansystolic murmur heard best at the apex with radiation into the axilla
L. Physiological splitting of the second heart sound
M. Reverse splitting of the second heart sound
N. Summation gallop rhythm
N – Summation gallop rhythm
A gallop rhythm is heard when the first (S1) and second (S2) heart sounds are followed by a pathological third (S3) and/or fourth (S4) heart sound. It is most commonly associated with left ventricular failure. When this rhythm is associated with tachycardia, the heart sounds cannot be individually distinguished and therefore ‘summate’ into a single sound. The third heart sound occurs in early diastole, and is caused by the rush of blood entering the ventricle as it relaxes. The presence of a third heart sound can be a normal finding in those below 40 years of age, but when pathological is associated with cardiac failure, mitral regurgitation and dilated cardiomyopathy. On auscultation, the presence of a third heart sound is thought to resemble the phonetic pronunciation of the word ‘Kentucky’.
The fourth heart sound occurs just before the first heart sound in the cardiac cycle. It is caused by the atria contracting against abnormally stiff ventricles, and is always pathological. A fourth heart sound can be heard in left ventricular hypertrophy, e.g. caused by aortic stenosis, systemic hypertension, amyloidosis and hypertrophic obstructive cardiomyopathy. On auscultation, the presence of a fourth heart sound is thought to resemble the phonetic pronunciation of the word ‘Tennessee’.
