Wilson's Disease

Praxis
S P Ramseier, H H Jung

Abstract

Wilson's disease is a rare inherited disorder of copper metabolism. If left untreated, the disorder has a fatal course within a few years after symptom onset. If discovered early, effective treatment is available, preventing further clinical deterioration and leading to a normal life expectancy. Accumulation of copper in liver and brain can lead to a variety of unspecific hepatic, neurologic and psychiatric symptoms such as jaundice, tremor, ataxia or depression. In patients under the age of 40 with unexplained hepatic, neurologic or psychiatric symptoms, Wilson's disease must be considered. Diagnosis can be made by measurement of urinary copper excretion and other tests as required. Lifelong decoppering treatment must be maintained. For the detection of deterioration of the disease or adverse effects of the medication as well as for the assessment of therapeutic compliance, regular clinical controls are necessary.

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