Wilson disease is a rare inherited condition. It affects how your body handles copper. Copper is a mineral that helps your body work properly but too much of it can be harmful.
In Wilson disease, copper builds up in your liver, brain, eyes and other organs because your body cannot get rid of it correctly. Over time, excess copper can cause liver damage and problems in other parts of your body.
With early diagnosis and treatment, many people with Wilson disease live long, healthy lives.
Wilson disease is a genetic condition. It’s caused by changes in a specific gene called the ATP7B gene. This gene helps move copper out of your liver and into bile so your body can get rid of it.
A child must get a nonworking copy of the ATP7B gene from each parent to develop the disease. This is called an autosomal recessive pattern. Parents who have one nonworking gene usually do not have symptoms but they can pass the gene to their children.
Wilson disease can affect people of any gender, race or ethnic group.
The symptoms of Wilson disease can vary a lot from person to person. They often start in older children, teens or young adults. Children are more likely to have liver disease at first. Adults may be more likely to have neurological symptoms or mental health changes. In rare cases, individuals may present with acute liver failure.
Copper can build up in your liver and damage liver cells. This can cause:
When copper affects the brain, it can lead to:
Some people also develop changes in mood or behavior, including:
Because these symptoms can look like other conditions, Wilson disease may be hard to spot without special testing.
With Wilson disease, copper can collect in your eyes and form a ring of color around the iris (the colored part of the eye). These are called Kayser Fleischer rings. You may not be able to see them with the naked eye.
An eye doctor uses a special microscope called a slit lamp to look for these rings and other eye changes.
Early diagnosis of Wilson disease is important. It helps providers start treatment before serious liver damage or brain injury happens. In some families, providers find Wilson disease before symptoms appear by testing relatives of someone who has it.
Several types of tests help make the diagnosis:
Wilson disease is a lifelong condition but treatment can reduce excess copper and prevent complications. When Wilson disease is treated properly, many people live normal, active lives.
Treatment often starts with medicines called chelating agents that attach to excess copper in your body and help you pass copper out in your urine.
You may also take other medicines, like zinc, to stop your body from absorbing copper from food.
Your care team may also suggest limiting foods high in copper, such as shellfish, liver, nuts, chocolate, mushrooms and some dried fruits.
People with Wilson disease need regular follow-up with liver and neurological specialists. Your care may include:
Wilson disease can be life threatening if treatment stops, so it is important not to miss medication doses or appointments.
Early, ongoing treatment reduces the risk of complications. Without treatment, Wilson disease can lead to:
If the liver is badly damaged or fails, doctors may recommend a liver transplant.
Talk to your primary care provider about Wilson disease if you or your child has:
Your provider may refer you to a gastroenterologist (digestive system specialist) or hepatologist (liver specialist) for testing. Children may see a pediatric liver specialist.
Seek emergency care right away if you notice signs of acute liver failure, such as:
At Banner Health, our expert team cares for Wilson disease and other rare liver conditions. Our specialists have experience in:
We work closely with you and your family to manage this condition over a lifetime so that you can live life as fully and safely as possible. Schedule an appointment with a Banner Health liver specialist near you.
Learn about hemochromatosis, where your body stores too much iron.
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