Wilson's disease

Wilson's disease is an autosomal-recessive inherited disorder of hepatic copper metabolism resulting in copper deposits in many organs. Clinically it appears as a chronic liver and/or typical neurosychiatric disorder. Diagnosis is straightforward if Kayser-Fleischer rings and/or reduced serum ceruloplasmin levels are present in addition to the neurologic symptoms. In cases presenting only with liver symptoms, no single parameter is sufficient to confirm the diagnosis - a combination of parameters including molecular genetic findings is needed (a diagnostic score by an international group has been proposed). Medical treatment requires life-long administration of copper chelators (D-penicillamine, trientine) or zinc. None of these treatment modalities has been confirmed in controlled studies. Liver transplantation is the treatment of choice for fulminant Wilson's disease and cases with advanced hepatic -disease refractory to treatment.