Alternative Names
Hepatolenticular degeneration
Definition of Wilson’s disease
Wilson’s disease is an inherited disorder in which there is too much copper in the body’s tissues. The excess copper damages the liver and nervous system.
Causes, incidence, and risk factors
Wilson’s disease is a rare inherited disorder. If both parents carry an abnormal gene for Wilson’s disease, there is a 25% chance in each pregnancy that the child will have the disorder.
Signs and tests
A slit-lamp eye examination may show:
Treatment
The goal of treatment is to reduce the amount of copper in the tissues. This is done by a procedure called chelation — certain medications can bind to copper and help remove it through the kidneys or gut. Treatment must be lifelong.
Expectations (prognosis)
Lifelong treatment is needed to control Wilson’s disease. The disorder may cause fatal effects, especially loss of liver function and toxic effects of copper on the nervous system. In cases where the disorder is not fatal, symptoms may be disabling.
Review
Chad Haldeman-Englert, MD, Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 9/10/2010
