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Wilson Disease

Contact the UPMC Center for Liver Care

To make an appointment with a hepatologist at the UPMC Center for Liver Care, call 412-647-1170 or fill out our contact form.


  • Overview
  • Symptoms and Diagnosis
  • Treatment

What Is Wilson Disease?

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.

Wilson disease causes

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 risk factors and complications

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:

  • Liver cirrhosis. Scar tissue can form in the liver due to excess copper, disrupting normal liver function.
  • Liver failure. Both sudden and gradual liver failure can happen with Wilson disease.
  • Blood problems. Excess copper can destroy red blood cells, leading to anemia and jaundice.
  • Neurological disturbances. People with untreated Wilson may develop tremors and trouble walking or talking.
  • Psychiatric problems. Personality changes, depression, and even bipolar disorder or psychosis can result from too much copper.

Why choose the UPMC Center for Liver Care for Wilson disease care?

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 Care.

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.

Wilson Disease Symptoms and Diagnosis

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.

Symptoms of Wilson disease

The most common symptoms include:

  • Abdominal pain.
  • Fatigue.
  • Loss of appetite.
  • Yellowed eyes or skin.
  • Fluid buildup in your legs or stomach.
  • Brownish ring around the colored part of your eye, known as Kayser-Fleischer rings.
  • Loss of physical coordination, including speech and swallowing.
  • Muscle stiffness or uncontrolled movements.

See your doctor if you have any of these symptoms, especially if you have a relative with Wilson disease.

Diagnosing Wilson disease

Your doctor can make a diagnosis of Wilson disease by using various tests, such as:

  • Blood.
  • Urine, to see how much copper your body passes each day.
  • Liver biopsy. In this minor procedure, your doctor will remove a small piece of liver to examine it.
  • Genetic testing if you have siblings or children.

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.

Wilson Disease Treatment

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.

Medicine to treat Wilson disease

People with Wilson disease will need to take medicine for the rest of their lives.

These drugs fall into two main types:

  • Chelating agents. These medications bind to copper, allowing it to leave the organs to enter the bloodstream. Once there, the kidneys can filter the copper, sending it out of the body via the urine.
  • Prescription zinc salts. These drugs prevent the gut from absorbing copper from the diet.

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.

Diet changes to treat Wilson disease

When you have Wilson disease, it's crucial to remove copper from your diet.

Follow these tips:

  • Avoid foods that contain copper. These include organ meats, shellfish, mushrooms, and chocolate.
  • Test your drinking water for copper, especially if your home has copper pipes. You may need to have a filter installed that will remove copper from your water supply.
  • Do not take any multivitamins or other supplements that contain copper. Ask your doctor or pharmacist before taking any supplements.

Surgery to treat Wilson disease

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.

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