Liver transplantation for Wilson disease

Area of Science:

• Hepatology
• Transplant Surgery
• Medical Genetics

Background:

• Wilson disease (WD) is a genetic disorder of copper metabolism leading to toxic copper accumulation in organs.
• Liver transplantation (LT) is a life-saving intervention for end-stage liver disease and acute liver failure (ALF) in WD.
• Current management involves copper-chelating agents, but LT remains essential for refractory or advanced cases.

Purpose of the Study:

• To review the current indications and controversies surrounding liver transplantation (LT) for Wilson disease (WD).
• To focus on LT in WD patients with neuropsychiatric involvement and acute liver failure (ALF).
• To discuss diagnostic approaches for Wilsonian ALF and future therapeutic options.

Main Methods:

• Literature review of current status, indications, and controversies of liver transplantation for Wilson disease.
• Analysis of diagnostic criteria for acute liver failure in Wilson disease.
• Evaluation of outcomes for deceased donor and living related liver transplantation in WD.
• Review of emerging therapeutic strategies such as hepatocyte transplantation and gene therapy.

Main Results:

• LT is the primary treatment for Wilsonian ALF and for chronic liver disease progressing to cirrhosis unresponsive to medical therapy.
• Early identification of Wilsonian ALF is critical, with 100% mortality without emergency LT.
• Simple biochemical tests show promise for diagnosing acute WD-related ALF.
• LT provides excellent 1- and 5-year survival rates, correcting copper metabolism and WD complications.
• Living related LT is a viable alternative with excellent outcomes and no disease recurrence.

Conclusions:

• Liver transplantation is a definitive treatment for Wilson disease with acute liver failure or advanced cirrhosis.
• Indications for LT in WD patients with progressive neurological disease remain debated.
• Hepatocyte transplantation and gene therapy represent promising future alternatives requiring further human studies.