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Wilson disease — RACP Adult Medicine MCQ

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HardGastroenterology and hepatologyWilson diseaseRACP Adult Medicine

A 21-year-old man presents with tremor, dysarthria and abnormal liver enzymes. Examination shows Kayser-Fleischer rings. Serum caeruloplasmin is low and urinary copper excretion is increased. What is the most likely cause?

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Correct answer: B — Inherited impairment of hepatic copper excretion

Wilson disease is due to inherited defective copper transport causing impaired biliary copper excretion and tissue accumulation. Autoimmune cholangitis, alcohol toxicity, IgG4 disease and HFE haemochromatosis have different biochemical and clinical patterns. Neurological signs with Kayser-Fleischer rings are a key clue.

Reference: AMH; Therapeutic Guidelines (eTG); GESA hepatology resources