A 38-year-old man presents with tremor, dysarthria, personality changes, and elevated liver enzymes. Kayser-Fleischer rings are present on slit-lamp examination. Serum ceruloplasmin is 8 mg/dL (normal 20–35 mg/dL). 24-hour urine copper is 280 μg/day (normal < 100 μg/day). What is the most appropriate initial pharmacological treatment?
- A Zinc acetate
- B Penicillamine ✓
- C Deferoxamine
- D Trientine with low-copper diet
Correct answer: B. Penicillamine
Explanation
This presentation is consistent with Wilson's disease (autosomal recessive ATP7B mutation causing copper accumulation). Kayser-Fleischer rings, low ceruloplasmin, and elevated urine copper are diagnostic. Penicillamine is the first-line chelating agent for symptomatic Wilson's disease; it promotes urinary copper excretion. Trientine is used when penicillamine is not tolerated. Zinc acetate inhibits intestinal copper absorption and is used for maintenance therapy or in asymptomatic 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.