Wilson disease is a rare autosomal recessive disease that causes copper metabolism disorders. Mutations in the ATP7B gene, which codes for a copper-transporting O, disrupt the copper homeostasis of the cells.
As a result, copper accumulation occurs mainly in the liver, CNS and eye. These accumulations lead to a multiplicity of symptoms, characteristic of the Kayser-Fleischer ring (in 80% of the patients) on the eye.
The liver is severely damaged, causing hepatitis, liver cirrhosis and liver fibrosis, as well as liver failure. Especially in young female patients, these liver damages occur suddenly and can become life-threatening in a short time.
Those affected suffer from increasingly severe neurological deficits such as polyneuropathy, tremor, ataxia, dyskinesia and seizures. If left untreated, the neurological deficits ultimately lead to bed-rest. The patients also suffer from personality changes, and show symptoms such as depression, neurosis or psychosis.
In women, the disease is partially recognized by spontaneous abortion or amenorrhoea. If Wilson's disease is not treated, the disease leads to death. Patients treated early may have a normal life expectancy.
The disease manifests between the fifth and the 32nd year of life, the incidence maximum is between 20 and 30 years. Wilson's disease is causally treatable by liver transplantation.