A 30-year-old man presents with acute liver failure, hemolytic anemia (Coombs-negative), and Kayser-Fleischer rings. Serum ceruloplasmin is 6 mg/dL (normal 20–35). Urine copper is 1800 μg/24h. He deteriorates rapidly. What is the definitive treatment?
- A D-penicillamine 750 mg/day to chelate copper
- B Liver transplantation as early as possible ✓
- C IV N-acetylcysteine and supportive care
- D Trientine plus zinc acetate combination therapy
Correct answer: B. Liver transplantation as early as possible
Explanation
Acute liver failure from Wilson's disease (fulminant hepatic Wilson's) has extremely high mortality without liver transplantation. Prognostic scoring using the Wilson Index (revised criteria) helps identify patients needing transplant. D-penicillamine and trientine are appropriate for chronic/stable Wilson's disease but are ineffective in acute liver failure; furthermore, acute copper release can worsen hemolysis. Liver transplantation corrects the metabolic defect (ATP7B gene mutation) and is curative, achieving >80% survival.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.