What is Wilson's Disease?

Wilson's Disease, also known hepatolenticular degeneration, is a genetic disorder in which copper accumulates in tissues of the body. The accumulation of copper in the body can cause neurological symptoms, psychiatric problems and liver disease.

Wilson’s Disease is a treatable condition and, with proper therapy, the progress of the disease can be halted. Treatment for Wilson’s Disease is aimed at removing excess copper from the body with medication and the prevention of further accumulation of copper in bodily tissues. Treatment for Wilson’s Disease is a life-long process and if treatment is stopped death could result. Immediate treatment is critical because children afflicted with Wilson’s Disease may become progressively sicker and delays in treatment could cause irreversible liver damage. If a child has irreversible liver damage a liver transplant is needed.

The diagnosis of Wilson’s Disease can be difficult without proper testing because the patient could appear to be completely healthy. The diagnosis of Wilson’s Disease is made by relatively simple tests that can diagnose the disease in both symptomatic patients and people who show no signs of the disease. These diagnostic tests can include:

  • Serum ceruloplasmin test
  • Urine copper test
  • Liver biopsy

To request an appointment with a physician at St. Louis Children's Hospital, call 314.454.5437 or 800.678.5437 or email us.