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Wilsons Disease
Sunday, 27 July 2003
Wednesday, 24 August 2005
Hepatolenticular Degeneration

What

Wilson disease is a rare autosomal recessive inherited disorder in which the body absorbs and retains excessive amounts of copper. The copper deposits in the liver, brain, kidneys, and eyes which leads to progressive damage to these organs. As a result, people with Wilson disease often develop liver disease, central nervous system (brain and spinal cord) damage and psychiatric problems. Psychiatric disturbances include depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration.

Who

Wilson disease affects individuals between the ages of 5 to 55, and usually presents before age 30. Children usually develop symptoms during the teenage years. Wilson disease is more common in eastern Europeans, and southern Italians, but may occur in any group. Approximately 1 in 30,000 individuals is affected by this disease.

Signs and Symptoms

The liver and brain are the two organs most significantly affected by Wilson disease, and the symptoms of the disease are usually the result of the dysfunction of the liver or brain. In general, the symptoms depend in the age of presentation, in that adolescents and children usually present with symptoms related to liver disease, while older individuals tend to present with symptoms of brain dysfunction. This pattern is not absolute, however, and individuals may present with liver or central nervous system dysfunction. Those with liver disease may present with asymptomatic elevation of liver function tests, with signs of chronic liver inflammation (hepatitis) such as fatigue, loss of appetite and yellowing of the skin (jaundice), or with severe overwhelming liver failure, a life threatening medical emergency which may require a liver transplant. Those with central nervous system dysfunction may present with alterations of personality or movement disorders. Psychiatric problems range from just subtle personality changes or poor school performance to depression, paranoia, and psychosis. Other signs of neurological disease include tremor, slurring of speech, clumsiness, and inappropriate and unusual grinning (called risus sardonicus).

Possible Causes

Wilson disease is an autosomal recessive genetic disease, which means that a child will develop the condition if he or she acquires two altered copies of a gene from the parents. The gene responsible for Wilson disease is called the ATP7B gene and is located on chromosome 13. This genetic mutation interferes with copper transport and prevents individuals with the disorder from properly excreting copper from their bodies. As a result, copper accumulates to dangerously high levels in the body and damages vital organs such as the liver and brain.

Diagnosis

Wilson disease is diagnosed through blood tests, urine tests, liver biopsy, and eye exams. A blood test is used to measure the amount of ceruloplasmin (a copper-binding protein) in the blood. Approximately 95% of patients with Wilson disease have a decreased level of serum ceruloplasmin. A copper urine test is performed to measure copper levels, which is usually elevated in patients with Wilson disease. A liver biopsy can reveal copper deposits or liver disease. An eye exam can show Kayser-Fleischer rings, which also indicate the presence of copper deposits. If a first degree relative is affected by Wilson disease, a genetic screening test can be performed.

Treatment

Treatment for individuals with Wilson disease involves reducing the amount of copper in the body and managing the symptoms of the disorder. Medications such as penicillamine and trientine can help remove copper from the body and prevent any future accumulation of copper. Zinc, potassium, or sodium supplements may be taken before meals to reduce the amount of copper that is absorbed from foods. People with Wilson disease should also take pyridoxine (vitamin B6) supplements and avoid foods high in copper (i.e. mushrooms, nuts, dried fruit, liver, shellfish, chocolate, and cocoa). Medical treatment for Wilson disease must be continued for life.

Prognosis

The prognosis for individuals with Wilson disease is highly variable. Some individuals develop liver damage that later requires liver transplantation. Also, the toxic effects of copper on the nervous system may cause permanent damage. However, if detected and treated early on, individuals with Wilson disease can lead normal lives.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

The American Liver Foundation
A well written article on WD with links to ongoing clinical trials.

Wilson's Disease Association International
A site dedicated to providing education, information and support to those affected by WD. It also has links to ongoing research and clinical trials.

WE MOVE
A nice site with information for caregivers and families of those affected with movement disorders like WD

Google Search for Wilsons Disease

References and Sources

The American Liver Foundation: www.liverfoundation.org/cgi-bin/dbs/articles.cgi?db=articles&uid=default&ID=1054&view_records=1