Wilson disease

Wilson disease is a rare genetic disorder in which biliary copper excretion is defective, resulting in copper accumulation. Diagnosis is most common in patients aged between 5 and 35 years, but patients can present later. Copper accumulates in various organs, particularly the liver, brain, kidney and cornea. As liver copper content increases, the liver becomes progressively damaged, resulting in cirrhosis.

Patients with Wilson disease may present with neuropsychiatric symptoms or liver impairment (eg acute liver failure, cirrhosis). Acute liver failure with marked hyperbilirubinaemia, haemolytic anaemia or kidney injury is an indication for liver transplant. Asymptomatic patients may be diagnosed by the presence of Kayser–Fleischer (KF) rings on routine examination. Diagnosis is based on clinical suspicion, low serum ceruloplasmin concentration, KF rings diagnosed by an ophthalmologist using slit lamp examination, and a high 24-hour urinary copper excretion.

If untreated, Wilson disease may be fatal; however, appropriate therapy results in an excellent prognosis. Patients should always be managed by a specialist. Lifelong drug therapy is required, and includes either penicillamine or trientine (chelating agents) or zinc (to decrease copper absorption), or a combination of these.