Liver transplantation for Wilson's disease

Wilson's disease is an inherited disorder of copper metabolism characterized by reduced biliary copper excretion, which results in copper accumulation in the tissues with liver injury and failure. Orthotopic liver transplantation (OLT) can be lifesaving for patients with Wilson's disease who present with fulminant liver failure and for patients' unresponsive to medical therapy. The aim of this study was to review our experience with OLT for patients with Wilson's disease. Between September 2001 and April 2007, 25 OLTs were performed in 24 patients (7 females and 17 males) with Wilson's disease of mean age 15.6 +/- 9.9 years (range, 5-51 years). Six patients underwent transplantation owing to coexistent fulminant hepatic failure and 18 with chronic advanced liver disease with (n = 8) or without (n = 10) associated neurologic manifestations. We performed 3 full-size, deceased-donor OLTs and 22 living-related donor OLTs. Eight patients had a family history of Wilson's disease. We detected a Kayser-Fleischer ring in 18 patients. All patients had a low serum ceruloplasmin level (mean, 27.8 mg/dL) and a high urinary copper excretion level (mean, 4119 mug/d) before OLT. Following successful OLT, there was a significant reduction in urinary copper excretion (median, 37.1 mug/d) in all patients. Mean follow-up was 21.7 +/- 19.8 months (range, 2-60 months). Retransplantation was required in 1 patient at 12 days after the first OLT owing to primary graft nonfunction. Five of the 24 patients died within 4 months of the surgery. The remaining 19 survivors (79%) have remained well, with normal liver function and no disease recurrence. In conclusion, OLT was a curative procedure for Wilson's disease among patients presenting with fulminant hepatic failure and others with end-stage hepatic insufficiency. After OLT, the serum ceruloplasmin level increased to the normal range, urinary copper excretion decreased, and neurologic manifestations improved.