Clinical scenario: Wilson disease | poor response to D-penicillamine
A 14-year-old boy with Wilson disease was started on D-penicillamine and pyridoxine 12 months ago. He has been fully compliant with treatment and a low-copper diet. However, he continues to have progressive dystonia, dysarthria, and worsening tremor. Liver function tests have improved, but his neurological symptoms have continued to deteriorate. There is no evidence of hepatic decompensation.
What is the most appropriate next step in management?
A. Double the dose of D-penicillamine
B. Add oral zinc while continuing D-penicillamine
C. Switch D-penicillamine to trientine
D. Stop chelation therapy and continue dietary copper restriction alone
E. Proceed directly to liver transplantation
Correct answer & Explanation:
Correct answer: C. Switch D-penicillamine to trientine
Explanation
Trientine is the preferred alternative chelator in patients who have intolerance or neurological worsening on D-penicillamine. Increasing the penicillamine dose may worsen neurological injury due to further copper mobilization. Liver transplantation is reserved for acute liver failure or end-stage liver disease, not isolated neurological progression.
