A 32-year-old man presents with haemolytic anaemia, elevated liver enzymes, behavioural changes, and a Kayser-Fleischer ring on slit-lamp examination. Serum ceruloplasmin is <10 mg/dL. 24-hour urinary copper is 200 μg/day. A liver biopsy shows cirrhosis with hepatic copper >250 μg/g dry weight. Which treatment is the definitive therapy for Wilson's disease?
- A D-penicillamine as lifelong chelation therapy
- B Zinc acetate to inhibit intestinal copper absorption
- C Liver transplantation for Wilson's disease with cirrhosis or fulminant failure ✓
- D Trientine (triethylenetetramine) for those intolerant to D-penicillamine
Explanation
Liver transplantation is the only definitive cure for Wilson's disease, as it replaces the defective ATP7B enzyme with normal hepatic copper metabolism, permanently correcting the metabolic defect. It is indicated for acute liver failure (fulminant Wilson's), decompensated cirrhosis unresponsive to medical treatment, or rarely, severe neuropsychiatric disease refractory to chelation. D-penicillamine and trientine are first-line chelation agents; zinc is used for maintenance and as monotherapy in presymptomatic patients. However, medical therapy is not curative and requires lifelong compliance. The question asks for the 'definitive' therapy, which is transplantation.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.