Wilson's disease- management and long term outcomes

Abstract

Wilson's disease (WD) is an autosomal recessive genetic disorder of copper metabolism leading to liver or brain injury due to accumulation of copper. Diagnosis is based on: clinical features, biochemical tests including plasma ceruloplasmin concentration, 24h urinary copper excretion, copper content in the liver, and molecular analysis. Pharmacological therapy comprises chelating agents (penicillamine, trientine) and zinc salts which seem to be very effective. Still, poor compliance is a major problem. Adolescents and patients with psychiatric disorders usually have problems with adherence to treatment. As transition is a vulnerable period transition ''training'' should start before the planned transfer, preferably already in early adolescence in cooperation between adult and pediatric clinics. Response to treatment is assessed based on physical examination, normal liver function tests and monitoring of copper metabolism markers. Liver transplantation has a well-defined role in Wilsonian acute hepatic failure according to the prognostic score. The long-term survival in WD patients seems to be very similar as for the general population if disease is early diagnosed and correctly treated. WD patients with a longer delay from diagnosis to therapy and who present with neurological and psychiatric symptoms have worse quality of life.

Keywords: Compliance; Prognosis; Quality of life; Rare diseases; Transition.