• Clinical science

Wilson disease

Summary

Wilson disease (hepatolenticular degeneration) is an autosomal recessive metabolic disorder in which impaired copper excretion causes copper to accumulate in the body. In its initial stages, Wilson disease leads to copper deposits in the liver. As the disease progresses, copper also accumulates in other organs, most importantly in the brain and cornea. The disease often goes undiagnosed until the typical combination of hepatitis (or even cirrhosis), dementia, and parkinsonism raises clinical suspicion. Kayser-Fleischer rings, brownish copper deposits visible around the iris, are a further indication of Wilson disease. Low serum ceruloplasmin (copper transport protein) concentrations and increased urinary copper excretion confirm the diagnosis. Genetic testing or liver biopsies with quantitative copper assays can provide further information if the diagnosis is indeterminate. Primary management consists of maintaining a low-copper diet and the administering a chelating agent such as penicillamine. The prognosis is good if the condition is diagnosed and treated early.

Epidemiology

  • Age of onset: 5–35 years; (mean age 12–23 years)
  • Prevalence: ∼ 1/30,000

References:[1][2]

Epidemiological data refers to the US, unless otherwise specified.

Pathophysiology

References:[3][4]

Clinical features

Wilson disease should be suspected in cases of nonspecific, noninfectious liver disease and nonspecific extrapyramidal movement disorders appearing before the age of 35!

References:[1][2][5][6]

Diagnostics

References:[7][5][8][2]

Differential diagnoses

References:[2]

The differential diagnoses listed here are not exhaustive.

Treatment

General management

Medical therapy

Treatment with a chelating agent should be administered gradually over the course of 3 to 6 months, as mobilizing the copper stored in tissues too rapidly may exacerbate neurological symptoms!
References:[9][10]