[Therapy of Wilson disease]

Area of Science:

• Genetics and rare diseases
• Hepatology
• Neurology

Context:

• Wilson disease is an autosomal-recessive copper storage disorder.
• Primarily affects adolescents and young adults.
• Characterized by hepatic and/or neurological manifestations.

Purpose:

• To outline diagnostic procedures for Wilson disease.
• To describe treatment aims and methods, including chelating agents and zinc therapy.
• To emphasize the importance of lifelong management and monitoring.

Summary:

• Diagnosis involves assessing serum copper, ceruloplamin, and urinary copper excretion, with liver biopsy for confirmation.
• Treatment focuses on reducing tissue copper via chelating agents (D-penicillamine, trientine) or zinc, inducing metallothionein synthesis.
• Lifelong therapy is essential, with regular monitoring to prevent copper reaccumulation and potential fulminant hepatic failure.

Impact:

• Effective management can normalize copper metabolism and improve clinical symptoms within six months.
• Lifelong treatment offers near-normal life expectancy, but interruptions can lead to severe complications.
• Liver transplantation is a curative option for end-stage liver disease or fulminant hepatic failure.