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Wilson Disease — RACP Adult Medicine MCQ

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ModerateGastroenterologyWilson DiseaseRACP Adult Medicine

A 22-year-old woman presents with tremor, dysarthria, and behavioural changes. She has mildly elevated transaminases and low serum caeruloplasmin. Slit-lamp examination reveals Kayser-Fleischer rings. 24-hour urine copper is markedly elevated. What is the most likely diagnosis?

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Correct answer: A — Wilson disease

Wilson disease presents with hepatic and neuropsychiatric features in young adults. Low caeruloplasmin, Kayser-Fleischer rings, and elevated 24-hour urine copper are diagnostic. Treatment is lifelong copper chelation (penicillamine or trientine) plus zinc. Liver transplantation is curative for hepatic decompensation.

Reference: EASL – 2022 – Wilson Disease Guidelines