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Wilson's disease is a genetic disorder in which the body is unable to rid itself of excess copper. Copper is found in many foods and is an important nutrient for the body. Typically the liver filters out copper and releases it into bile where it leaves the body through the gastrointestinal tract. When the body is unable to do this, copper accumulates in the liver and then in the central nervous system. This excess copper can damage the liver, nervous system, eyes and other organs.
Wilson's disease is caused by a defective gene. When a person is a carrier of the gene (has one copy of the defective gene), he or she does not have symptoms. To have the condition, you need two copies of the defective gene. When both parents are carriers of the gene, there is a 1-4 chance that their child will have Wilson's disease.
Wilson’s disease usually affects older children, teenagers and adults. Many patients have no symptoms of the condition until later in life.
The liver is usually the first organ to be affected when there is an accumulation of copper. Liver-related symptoms include:
Once the central nervous system is affected, symptoms may include:
If your child experiences symptoms of Wilson's disease, a pediatric gastroenterologist can perform the following exams and tests to help make a diagnosis:
The goal of treatment for Wilson's disease is to reduce the amount of copper in the body. Treatment must be lifelong, and it is important for patients to regularly take their medicines. Children with Wilson's disease can enjoy good health if the disease is detected and treated early. Types of treatments include:
Visit the websites below to find support groups and services and learn more about Wilson's disease.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
The Riley at IU Health Liver Support Group meets one or two times a year for a family-oriented education program and socializing. Topics include testing for liver disease, complications of liver disease, impact of chronic disease on the family, liver transplant, nutrition for liver disease and medicine for liver disease. Please call 317.944.3774 for meeting dates and times.
The American Liver Foundation provides in-depth information about Wilson's disease on its website.
This site from the National Institutes of Health provides information about treatments and clinical trials for Wilson's disease.
The Wilson Disease Association website contains information for patients and families living with Wilson's disease, including support contacts and current clinical trials.
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