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Wilson disease is a rare genetic disorder that is passed from parents to children (inherited). It prevents your body from getting rid of extra copper in your system.
Your body needs small amounts of copper from food to stay healthy. But too much copper is poisonous.
Normally, your liver gets rid of extra copper by sending it out in bile. Bile is the digestive juice your liver makes. It carries toxins and waste out of your body through your GI tract (gastrointestinal tract).
When you have Wilson disease, your liver stops working normally. Instead of getting rid of copper, your liver starts storing it. Over time, there is too much copper for your liver to hold. The extra copper gets into your bloodstream. It collects in other organs as well as in your eyes and brain.
This can damage your organs. Over time it can be life-threatening.
When you have Wilson disease, copper buildup begins when you are born. But it can take years or even decades for symptoms to appear. Symptoms can start at any age but in most cases they start between ages 5 and 35.
The symptoms of Wilson disease vary depending on the organs that are affected.
One symptom that only happens with Wilson disease is having brown rings around the iris (colored part) of the eyes (called Kayser-Fleischer rings). They are seen only on the eye exam. Copper buildup causes the rings. The rings don’t cause vision problems.
Wilson disease may attack your brain and spinal cord (your central nervous system) and your liver. It may attack them at the same time. This can cause a group of symptoms that don’t seem to be related.
Liver symptoms may be those of long-lasting (chronic) liver disease such as:
Copper buildup in the central nervous system can cause symptoms such as:
When copper builds up in the central nervous system, it can also cause psychological changes such as:
Wilson disease can also cause other symptoms such as:
The symptoms of Wilson disease may look like other health problems. Always see your healthcare provider for a diagnosis.
Wilson disease can be difficult to diagnose. Many of the symptoms may look like symptoms of other diseases.
To diagnose the condition, your provider will look at your overall health and ask about your past health. He or she will ask about your symptoms and give you a physical exam.
You may also have the following tests:
Your healthcare provider will create a care plan for you based on:
There is no cure for Wilson disease. Lifelong treatment is needed to reduce the amount of copper in your body.
Treatment may include:
Early treatment can help prevent severe problems.
Wilson disease can lead to many liver-related problems including:
Neurological symptoms can make it difficult for you to function normally. Brain damage is also possible.
Wilson disease can be fatal.
There is no way to prevent Wilson disease. But genetic counseling may help you find out if your current or future children are at risk for the disorder.
Talk to your health care provider about genetic testing if you have a family or personal history of the condition. When someone has Wilson disease, their brothers or sisters should be tested. More distant relatives who have neurological or liver symptoms should also be tested.
Your provider may suggest you take medicine to help keep your copper level under control. You may also need to change your diet to help reduce your copper intake. These dietary changes include:
You should test your drinking water for copper, or find a source of water that has no copper.
It's also important to see your provider for regular follow-up visits and lab tests to make sure your copper levels are under control.
If you want to get pregnant or you are pregnant, tell your provider. You may need to change the amount of medicine you take while you are pregnant.
Talk with your provider about other things you can do to keep your liver healthy. This includes getting vaccines for hepatitis A and B.
Call your provider if you have psychological symptoms that get worse, such as thoughts of suicide.
Also call your provider if you show signs of possible liver failure, such as:
Tips to help you get the most from a visit to your healthcare provider:
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