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Wilson's disease

Medically reviewed by Drugs.com. Last updated on Dec 2, 2023.

Overview

Wilson's disease is a rare inherited condition that causes copper levels to build up in several organs, especially the liver, brain and eyes. Most people with Wilson's disease are diagnosed between the ages of 5 and 35. But younger and older people can be affected too.

Copper plays a key role in building healthy nerves, bones, collagen and the skin pigment melanin. You usually take in copper from the food you eat. Your liver produces a substance called bile that removes any extra copper.

But in people with Wilson's disease, copper isn't removed properly and instead builds up. Sometimes it can be life-threatening if it's not treated. When diagnosed early, Wilson's disease is treatable, and many people with the condition live normal lives.

The liver

The liver is the largest internal organ in the body. It's about the size of a football. It sits mainly in the upper right portion of the stomach area, above the stomach.

Symptoms

Wilson's disease is present at birth, but symptoms don't appear until copper levels build up in the brain, liver, eyes or another organ. Symptoms vary based on the parts of your body the disease affects.

These symptoms can include:

When to see a doctor

Make an appointment with your doctor or other primary care provider if you have symptoms that worry you, especially if a family member has Wilson's disease.

Causes

Wilson's disease is caused by a changed gene passed down from each parent. If you get only one affected gene, you won't get the disease yourself, but you'll be a carrier. This means you could pass the affected gene to your children.

Autosomal recessive inheritance pattern

Wilson's disease is caused by a changed gene inherited from each parent. Inheriting a changed gene from just one parent rarely affects a person's health. But that person has one changed gene and one typical gene. Two carriers of changed genes have a 25% chance of having a child with two typical genes, a 50% chance of having a child who is a carrier, and a 25% chance of having a child who is affected by Wilson's disease.

Risk factors

You can be at greater risk of Wilson's disease if your parents or siblings have the condition. Ask your doctor whether you should have genetic testing to find out if you have Wilson's disease. Diagnosing the condition as early as possible greatly increases the chances of successful treatment.

Complications

If Wilson's disease isn't treated, sometimes it can lead to death. Serious complications include:

Healthy liver vs. liver cirrhosis

A healthy liver, at left, shows no signs of scarring. In cirrhosis, at right, scar tissue replaces healthy liver tissue.

Diagnosis

Diagnosing Wilson's disease can be hard because its symptoms often are like other liver diseases, such as hepatitis. Also, symptoms can occur over time. Changes in behavior that come on gradually can be especially hard to link to Wilson's disease.

Doctors rely on symptoms and test results to make the diagnosis. Tests and procedures used to diagnose Wilson's disease include:

Liver biopsy

A liver biopsy removes a small sample of liver tissue for laboratory testing. A liver biopsy often is done by putting a thin needle through the skin and into the liver.

Treatment

Your doctor might recommend medicines called copper chelating agents. These medicines attach themselves to copper and cause your organs to release that copper into your bloodstream. Your kidneys then filter the copper and release it into your urine.

Treatment then focuses on stopping copper from building up again. For severe liver damage, a liver transplant might be needed.

Medicines

If you take medicines for Wilson's disease, treatment is lifelong. Medicines include:

Your doctor also might recommend ways to treat other symptoms of Wilson's disease.

Surgery

If your liver damage is serious, you might need a liver transplant. During a liver transplant, a surgeon removes your diseased liver and replaces it with a healthy liver from a donor.

Most transplanted livers come from donors who have died. Sometimes a liver can come from a living donor, such as a family member. In that case, the surgeon removes your diseased liver and replaces it with a portion of the donor's liver.

Living liver transplant

During living liver donation, surgeons remove about 40% to 70% of the donor liver and place it into the recipient.

Lifestyle and home remedies

If you have Wilson's disease, your doctor likely will recommend that you limit the amount of copper in your diet. Also, if you have copper pipes in your home, you might want to test the copper levels in your tap water. Be sure to stay away from multivitamins that contain copper.

Foods that contain high amounts of copper include:

Ask your healthcare team for more information on foods that have high amounts of copper.

Preparing for an appointment

You'll likely first see your family doctor. Then you might be referred to a doctor who specializes in the liver, also known as a hepatologist.

What you can do

When you make the appointment, ask if there's anything you need to do ahead of time, such as change your diet for blood tests.

Make a list of:

If possible, take a family member or friend along to help you remember the information you're given.

For Wilson's disease, questions to ask your doctor include:

Don't hesitate to ask other questions.

What to expect from your doctor

Your doctor is likely to ask you several questions, such as:

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