A 28-year-old woman presents with acute liver failure, haemolytic anaemia (Coombs negative), and Kayser-Fleischer rings. Serum caeruloplasmin is 8 mg/dL (low). Which combination of findings on liver copper studies is most characteristic of Wilson's disease presenting as acute liver failure?
- A High serum copper with low urinary copper
- B Very high urinary copper (> 100 µg/24h), elevated liver copper (> 250 µg/g dry weight), and paradoxically low serum ceruloplasmin with high serum free copper ✓
- C Normal liver copper with elevated serum caeruloplasmin
- D Low urinary copper due to hepatic release of bound copper into serum
Correct answer: B. Very high urinary copper (> 100 µg/24h), elevated liver copper (> 250 µg/g dry weight), and paradoxically low serum ceruloplasmin with high serum free copper
Explanation
Wilson's disease in acute liver failure shows very high urinary copper excretion (> 100 µg/24h, often > 1000 µg/24h), markedly elevated liver copper (> 250 µg/g dry weight), low serum caeruloplasmin (as an acute-phase reactant it may be less reliable), and high serum free (non-caeruloplasmin-bound) copper. The combination of acute liver failure + Coombs-negative haemolytic anaemia + low alkaline phosphatase (due to copper release inhibiting ALP) is the classic triad pointing to Wilson's.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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