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Wilson disease — ESEGH MCQ

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HardHepatologyWilson diseaseESEGH

A 22-year-old man is admitted with acute liver failure. He is confused, jaundiced and has a tremor. Blood tests show bilirubin 310 micromol/L, ALT 142 IU/L, ALP 34 IU/L, INR 3.1 and a Coombs-negative haemolytic anaemia. There is no paracetamol ingestion. What is the most likely diagnosis?

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Correct answer: D — Wilson disease presenting as acute liver failure

Young age, acute liver failure, Coombs-negative haemolysis and disproportionately low ALP strongly suggest Wilson disease. Acute viral hepatitis usually produces very high transaminases without haemolysis. Budd-Chiari syndrome more often presents with painful hepatomegaly, ascites and hepatic venous outflow obstruction on imaging. The pearl is that Wilson disease should be considered in any young adult with unexplained acute liver failure.

Reference: https://www.nice.org.uk/guidance/conditions-and-diseases/digestive-tract-conditions