A 32-year-old man presents with acute liver failure, haemolytic anaemia, neuropsychiatric symptoms, and Kayser-Fleischer rings. Serum ceruloplasmin is 10 mg/dL (reference: 20–60). Which treatment is the definitive long-term option for Wilson's disease?

• A D-penicillamine is first-line for all presentations
• B Liver transplantation corrects only the hepatic manifestations, not neurological
• C Tetrathiomolybdate is the only approved therapy for neurological Wilson's disease
• D Trientine or zinc acetate for stable disease; liver transplantation for acute liver failure ✓

Explanation

In Wilson's disease presenting with acute liver failure, liver transplantation is the treatment of choice as it is life-saving and corrects the metabolic defect, leading to resolution of haemolysis and preventing further copper accumulation. For stable disease, trientine (preferred over D-penicillamine due to fewer side effects) or zinc acetate (for maintenance) are used. Importantly, liver transplantation also ameliorates neurological manifestations in most patients.

Reference: Harrison's Principles of Internal Medicine, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.