| Definition: |
An inherited disorder where there is excessive amounts of copper in the body, which causes a variety of effects including liver disease and damage to the nervous system.
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| Alternative Names: |
Hepatolenticular degeneration
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| Causes, incidence, and risk factors: |
Wilson disease (hepatolenticular degeneration) is a rare inherited disorder, affecting approximately 1 out of 1 million people. If both parents carry an abnormal gene for Wilson disease there is a 25% chance that each of their children will develop the disorder (i.e., Wilson is an autosomal recessive disease). It is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. The disorder most commonly appears in people under 40 years old. In children, the symptoms begin to be expressed by around 4 years old.
Wilson disease causes the body to absorb and retain excessive amounts of copper. The copper deposits in the liver, brain, kidneys, and the eyes. The deposits of copper cause tissue damage, necrosis (death of the tissues), and scarring, which causes decreased functioning of the organs affected. Liver failure and damage to the central nervous system (brain, spinal cord) are the most predominant, and the most dangerous, effects of the disorder. |
| Signs and tests: |
Eye examination may show Kayser-Fleischer rings (rusty or brown-colored ring around the iris). Eye movement may be restricted. Examination may show signs of liver or spleen disorders (including cirrhosis and liver necrosis), damage to the central nervous system including loss of coordination, loss of muscular control, muscletremors, loss of cognitive and intellectual functions, loss of memory, confusion (delirium or dementia), and other damage.
Serum ceruloplasmin is low. Serum copper is low in spite of the copper deposits in tissues. Urine copper is high. CBC may show hemolytic anemia or decreased white blood cell count. Serum uric acid levels are low.
Lab abnormalities with liver insufficiency:
A head MRI or head CT scan may be abnormal, especially in a region of the brain called the basal ganglia, but nonspecific. An abdominal X-ray, abdominal MRI, or CT scan of the abdomen may indicate liver disease or other abnormality. A liver biopsy or biopsy of the kidneys or other suspect tissue shows deposits of copper, and shows tissue changes that indicate damage to the tissues. This disease may increase the protein and amino acid level in a 24-hr. urine specimen.
Genetic testing for an abnormality (mutation) in the Wilson disease gene (ATP7B)is available.
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| Treatment: |
The goals of treatment are to reduce the amount of copper in the tissues and to manage the symptoms of the disorder. Treatment must be lifelong.
Pyridoxine (vitamin B6) is used to counteract nervous tissue damage. Potassium or sodium supplements may be given before meals to reduce the amount of copper that is absorbed from foods.
Penicillamine is a medication that helps move copper out of the tissues and causes it to be excreted from the body in the urine. Corticosteroids such as prednisone may be used if the person cannot tolerate penicillamine.
A low-copper diet may be recommended, including avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. Distilled water may be suggested because most tap water flows through copper pipes. Avoid using copper cooking utensils.
Symptoms are treated as appropriate, including exercises or physical therapy, and protective measures for people who are confused or unable to care for themselves. |
| Support Groups: |
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Wilson disease support groups can be found at http://www.geneticalliance.orgwww.geneticalliance.org.
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| Expectations (prognosis): |
| Lifelong treatment is required to control the disorder. 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. |
| Complications: |
- acute hepatitis
- chronic hepatitis
- cirrhosis
- liver necrosis (death of liver tissues)
- spleen dysfunction
- anemia
- increased incidence of infections
- injury caused by falls
- loss of ability to interact with other people
- loss of ability to function at work and home
- loss of ability to care for self
- loss of muscle mass (atrophy)
- joint contractures or other deformity
- increased incidence of bone fractures
- side effects of penicillamine
- side effects of other medications used to treat the disorder
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| Calling your health care provider: |
| Call your health care provider if symptoms indicate Wilson disease may be present. Call a genetic counselor if Wilson disease is present in your family. |
| Prevention: |
| Genetic counseling is recommended for persons with a family history of Wilson's disease. |
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Review Date: 8/31/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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