A 32-year-old woman presents with haemolytic anaemia, elevated serum ferritin, low ceruloplasmin, and elevated 24-hour urine copper (480 µg/day). Slit-lamp examination reveals Kayser-Fleischer rings. She has a serum copper of 28 µg/dL (reference >70 µg/dL) and elevated free copper. Liver biopsy shows copper >250 µg/g dry weight. She is asymptomatic neurologically. First-line treatment is:
- A D-penicillamine plus pyridoxine supplementation ✓
- B Zinc acetate monotherapy
- C Trientine alone
- D Liver transplant immediately
Explanation
Wilson's disease in a symptomatic patient (haemolytic anaemia, hepatic copper overload with Kayser-Fleischer rings) requires chelation therapy as first-line. D-penicillamine is the traditional first-line chelator; pyridoxine (B6) is co-administered because penicillamine is a pyridoxine antagonist. Trientine is an alternative with fewer side effects, often preferred in patients intolerant of penicillamine. Zinc acetate is used for maintenance therapy (not induction) and in asymptomatic pre-symptomatic siblings. Liver transplant is reserved for fulminant liver failure or end-stage hepatic disease not responding to medical therapy.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.