EMQs in Clinical Medicine.pdf - Peshawar Medical College

170 The abdomen and surgery
A
K
E
H
D
Liver metastases and conditions associated with a macronodular cirrhosis
may give rise to a hard irregular liver. The significantly raised
-fetoprotein (AFP) is suggestive of hepatocellular carcinoma. Hepatitis
and chronic cardiac failure are usually associated with a smooth rather
than an irregular hepatomegaly.
A 45-year-old man presents with arthralgia, tiredness and development
of diabetes. On examination his skin is pigmented and blood
tests show increased serum ferritin.
Haemochromatosis is an autosomal recessively inherited disorder of iron
metabolism that most commonly presents in middle-aged men. The
presentation can be very non-specific in the early stages, e.g. lethargy,
joint pain. Later the classic features of chronic liver disease and ‘bronze
diabetes’ (hence pigmentation) may become apparent. Haemochromatosis
can also cause a dilated cardiomyopathy, resulting in heart failure.
Blood tests show a raised serum iron and ferritin with decreased total
iron-binding capacity.
Radiographs of the painful joints may show signs of chondrocalcinosis.
Venesection plays an important role in long-term management to
maintain the haematocrit and ferritin within normal ranges.
A 60-year-old publican presents with signs of spider naevi, gynaecomastia
and testicular atrophy. His hands show clubbing and leukonychia.
Other signs of chronic liver disease include Dupuytren’s contracture,
palmar erythema and parotid enlargement.
A 20-year-old man with a history of liver problems in the past
presents with tremor and dysarthria with developing dyskinesias.
Slit-lamp examination reveals a greenish-brown ring at the
corneoscleral junction.
Wilson’s disease is an autosomal recessive condition characterized by
toxic accumulation of copper in the liver and brain. The characteristic
eye sign described in the question is a Kaiser–Fleischer ring, which is
best observed under slit-lamp examination and is virtually
pathognomonic of Wilson’s disease. It is a greenish-brown ring that
can be seen at the corneoscleral junction. It is caused by copper
deposition in Descemet’s membrane.
Neurological problems may manifest as dementia, tremor, dyskinesias, etc.
Management of Wilson’s disease involves long-term treatment with a
copper-chelating agent such as penicillamine.
A 50-year-old man presents with signs of chronic liver disease with a
history of early onset pulmonary emphysema. He is a non-smoker
and is teetotal. His father had a similar history.
1 -Antitrypsin deficiency is an autosomally dominant inherited condition
that characteristically affects the lungs and the liver. Pulmonary