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Wilson Disease ALF — RACP Adult Medicine MCQ

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HardGastroenterologyWilson Disease ALFRACP Adult Medicine

A 18-year-old man presents with acute liver failure, Kayser-Fleischer rings on slit-lamp examination, Coombs-negative haemolytic anaemia, and very low serum ceruloplasmin (0.05 g/L). ALP is paradoxically low. ALP:bilirubin ratio is <4. AST:ALT ratio is >2.2. 24-hour urine copper is markedly elevated. What is the most likely aetiology?

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Correct answer: D — Wilson disease

ALF with Kayser-Fleischer rings, Coombs-negative haemolytic anaemia, very low ceruloplasmin, low ALP (paradoxically — copper toxicity damages ALP-producing cells), and elevated urine copper is Wilson disease presenting as fulminant hepatic failure. ALP:bilirubin ratio <4 and AST:ALT ratio >2.2 are highly suggestive. Wilson disease ALF has near-100% mortality without liver transplant — urgent listing is required.

Reference: EASL – 2022 – Wilson Disease; eTG Gastrointestinal 2024