Movement Disorders

Wilson Disease

What is Wilson disease?

Wilson disease is a genetic, or inherited, condition. A mutation, or defect, in your ATP7B gene prevents your body from properly getting rid of extra copper in your system. Copper, which you consume in your diet, is one of the many minerals your body needs in small amounts. However, too much copper is toxic.

Normally, your liver sends excess copper out of your body in bile, the digestive juice your liver manufactures. Wilson disease prevents your liver from functioning normally. Instead of getting rid of the mineral, your liver starts storing it. Eventually, the buildup is more than the liver can hold, and the excess copper gets into your bloodstream and collects in other organs, even your eyes and brain. This buildup of copper begins when you're born, but it can take years or even decades for symptoms to appear.

What are the symptoms of Wilson disease?

The symptoms of Wilson disease depend on the organs involved. Rusty brown rings around the iris of your eye, called Kayser-Fleischer rings, are the most significant symptom. The copper buildup causes these rings, which affect about half of all people with Wilson disease. Wilson disease may attack your central nervous system, as well as your liver, sometimes at the same time. As a result, you may have a collection of seemingly unrelated symptoms.

Symptoms can appear at any time in life, although they usually start between ages 5 and 35. Liver symptoms tend to appear in late childhood or adolescence, whereas neurological symptoms appear in adulthood.

Liver symptoms include:

Neurologic symptoms include:

Other miscellaneous symptoms you might experience are:

Who is at risk for developing Wilson disease?

Wilson disease is rare, affecting just one in 40,000 people. Both of your parents need to carry the mutation of the ATP7B gene, in order for you to get it. If only one parent has it, you may inherit the gene, but never develop the disease. Wilson disease affects men and women equally.

How is Wilson disease diagnosed?

To diagnose the condition, your physician will consider:

How is Wilson disease treated?

There is no cure for Wilson disease. Lifelong treatment is necessary and could include:

Are there complications that can occur?

Wilson disease can lead to various liver-related problems, including liver damage, hepatitis, cirrhosis, and liver failure. You could have difficulty functioning because of neurological symptoms. Brain damage is a possibility and the disease can be fatal.

Can Wilson disease be prevented?

There is no cure for Wilson disease. However, with genetic counseling, you might be able to determine whether your current or future children are at risk of developing it. Your health care provider may recommend genetic testing, if there is a strong family or personal history of the condition. Siblings of someone with Wilson disease should be tested; so should more distant relatives who have neurological or liver symptoms that could be related to Wilson disease.

How do you manage or live with Wilson disease?

Your doctor may suggest medication to help keep copper under control. You may also need dietary changes to help reduce your copper intake, including:

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