27B. Wilson’s disease

Definition and epidemiology

Wilson disease is an autosomal recessive disorder of copper metabolism characterised by the toxic accumulation of copper, mainly in the liver and central nervous system that may present with hepatic, neurologic and/or psychiatric symptoms.

Symptoms can begin any time in the age of 5 – 35 years.

Pathomechanism

A mutation in the ATP7B gene, a copper transporter causes decreased copper excretion and decreased incorporation of copper into apoceruloplasmin, thereby causing increased free serum copper. This causes copper to accumulate in the liver, CNS, cornea, kidneys, etc.

Clinical features

The patient may experience any combination of hepatic, psychiatric, and neurological symptoms.

  • Hepatic symptoms
    • Jaundice
    • Ascites
    • Acute liver failure
    • Chronic hepatitis
  • Psychiatric symptoms
    • Dementia
    • Depression
    • Personality change
  • Neurological symptoms
    • Parkinsonism and other extrapyramidal symptoms
    • Dystonia
    • Chorea

Green-brown rings on the periphery of the iris, so-called Kayser-Fleischer rings, are characteristic for the disease.

Diagnosis and evaluation

Diagnosis is based on elevated serum copper, decreased serum ceruloplasmin, and increased urinary copper excretion. MRi-SWI shows deposition of metal in the brainstem.

Genetic testing can confirm the diagnosis.

Treatment

Treatment is by a copper chelator, either trientine or penicillamine.


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