A 30-year-old woman presents with hemolytic anemia, liver cirrhosis, psychiatric symptoms, and Kayser-Fleischer rings on slit-lamp examination. Serum ceruloplasmin is 8 mg/dL (low). Which investigation confirms the diagnosis of Wilson's disease in the setting of this clinical suspicion?
- A Liver biopsy with hepatic copper quantification >250 μg/g dry weight ✓
- B 24-hour urine copper >100 μg/day
- C MRI brain showing T2 hyperintensity in basal ganglia
- D Serum free copper >25 μg/dL
Correct answer: A. Liver biopsy with hepatic copper quantification >250 μg/g dry weight
Explanation
The gold standard for confirming Wilson's disease is hepatic copper quantification on liver biopsy showing >250 μg copper per gram of dry weight (normal <50 μg/g). While low ceruloplasmin, elevated 24-hour urine copper (>100 μg/day at baseline, or >1600 μg after D-penicillamine challenge), and Kayser-Fleischer rings are highly supportive, none individually confirm the diagnosis as definitively as liver copper content. The Leipzig scoring system integrates all findings; liver copper >4× normal (>250 μg/g) alone provides 2 points which is diagnostic.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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