A 25-year-old woman presents with acute liver failure, Kayser-Fleischer rings, serum ceruloplasmin 8 mg/dL, 24-hour urine copper 680 µg/day, and haemolytic anaemia. The AASLD revised diagnostic score is calculated. Which combination of findings gives the highest diagnostic certainty for Wilson's disease?
- A KF rings alone are pathognomonic and no further testing is required
- B KF rings + liver copper >250 µg/g dry weight + low ceruloplasmin + Coombs-negative haemolysis ✓
- C Elevated urine copper plus abnormal MRI brain (T2 hyperintensities in putamen)
- D Homozygous ATP7B mutation on genetic testing alone
Explanation
Wilson's disease diagnosis uses the Leipzig scoring system: KF rings (+2), neurological symptoms (+2), serum ceruloplasmin <0.1 g/L (+2), Coombs-negative haemolytic anaemia (+1), liver copper >250 µg/g dry weight (+2), and urine copper >100 µg/day (+1). A score ≥4 is diagnostic. The combination of KF rings, hepatic copper >250 µg/g, low ceruloplasmin, and Coombs-negative haemolysis gives >4 points confirming diagnosis. KF rings alone are not pathognomonic (absent in 50% of hepatic presentations). ATP7B testing is confirmatory but biallelic pathogenic variants are needed.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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Written and medically reviewed by the StethoPrep medical team.