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General Medicine · Hepatology: unconjugated hyperbilirubinaemia
Sample itemA 19-year-old man develops mild jaundice during a viral fever and a day of fasting. Total bilirubin is 3.0 mg/dL, almost entirely unconjugated. Liver enzymes, haemoglobin and reticulocyte count are normal, the smear is normal and there is no bilirubin in the urine. What is the most likely diagnosis and management?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Gilbert syndrome, with reassurance and no treatment
Gilbert syndrome results from reduced UGT1A1 activity, causing benign intermittent unconjugated hyperbilirubinaemia that increases with fasting, illness or stress. Diagnosis rests on normal liver tests and no haemolysis, and no treatment is needed. Crigler-Najjar presents in infancy with higher bilirubin, while Dubin-Johnson causes conjugated hyperbilirubinaemia with bilirubinuria.
Option by option
A. Dubin-Johnson syndrome, with liver biopsy
Dubin-Johnson syndrome produces conjugated bilirubin, which appears in urine, so the pattern here does not fit.
B. Haemolytic anaemia, with splenectomy
Normal haemoglobin, reticulocytes and smear exclude haemolysis, so splenectomy is not indicated.
C. Gilbert syndrome, with reassurance and no treatment (correct)
Isolated mild unconjugated hyperbilirubinaemia precipitated by fasting with otherwise normal tests is typical of Gilbert syndrome, which is harmless.
D. Crigler-Najjar type II, with a phenobarbitone trial
Crigler-Najjar type II is a rarer childhood-onset disorder with higher bilirubin levels, and is not suggested by a mild fasting rise.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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