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Wilson disease is a rare genetic disorder in which too much copper builds up in your body. Small amounts of copper are vital for cells to work properly. But too much copper becomes toxic.
Your liver, brain, and eyes are the most common sites where too much copper builds up.
Early diagnosis and treatment may prevent serious, even life-threatening, problems.
Wilson disease occurs in at least 1 in 30,000 people worldwide.
Many genetic diseases, including Wilson, need one faulty gene from each parent for a child to have it. If only one parent passes on the gene for Wilson disease, the child won't have it.
But that child will be a carrier. If that child's future partner also carries the gene mutation that causes Wilson disease, their children will have it.
Because it is a genetic disorder, there is currently no way to prevent Wilson disease.
Wilson disease is equally common in both men and women and occurs equally in all races.
The only known risk factor is having a parent or siblings with the disorder.
If you have a parent or sibling with Wilson disease, your doctor may suggest genetic testing. If you do have it, the earlier you receive treatment, the more likely it will be successful.
Wilson disease can be fatal if left untreated.
Serious complications include:
Wilson disease is a lifelong disease with no cure.
To best manage this condition, you'll want to choose a seasoned specialist who has treated many people with Wilson disease. That's what you'll get at the UPMC Center for Liver Diseases.
If Wilson disease pushes you into liver failure, you'll need a liver transplant.
Doctors with UPMC Transplant Services have performed more than 20,000 organ transplants since 1981. And their deep expertise with living-donor liver transplants may give you more options.
Although people with Wilson disease are born with it, they won't show symptoms until copper builds up in their bodies. This most commonly happens during the late teen or young adult years.
Wilson disease can affect different organs, so symptoms may vary.
The most common symptoms include:
See your doctor if you have any of these symptoms, especially if you have a relative with Wilson disease.
Your doctor can make a diagnosis of Wilson disease by using various tests, such as:
You may also need an ophthalmologist to check your eyes using a special device called a slit lamp. These eye doctors can test your eyes for Kayser-Fleischer rings caused by copper buildup.
The first goal of treatment for Wilson disease is to help your body pass the extra copper it stored up over time.
After that, the goal of treatment is to prevent copper levels from ever rising again.
If you develop liver failure, you may need a liver transplant.
People with Wilson disease will need to take medicine for the rest of their lives.
These drugs fall into two main types:
Your doctor can also prescribe medicine to help manage the symptoms of Wilson disease.
Your doctor may also suggest that you get hepatitis A and hepatitis B vaccines to help protect your liver.
When you have Wilson disease, it's crucial to remove copper from your diet.
Follow these tips:
About 5% to 10% of people with Wilson disease ultimately need a liver transplant.
In this major surgery, doctors remove your diseased liver and replace it with a healthy liver from a donor.