Overview

Wilson Disease is an inherited condition that causes the body to retain excess copper. Normally, the liver removes extra copper by releasing it into bile, which then leaves the body through the digestive system. In Wilson disease, this process does not work properly, so copper builds up in the liver and causes damage.

As liver damage progresses, the liver can no longer safely store copper. Copper then spills into the bloodstream and deposits in other organs- most commonly the brain, eyes, and kidneys. If not treated, Wilson Disease can cause severe brain damage, liver failure, and death. With early diagnosis and lifelong treatment, however, most people can live full, healthy lives.

Facts at-a-Glance

Wilson Disease is a genetic disorder that prevents the body from eliminating extra copper.
It affects approximately one in 30,000 people worldwide.
Symptoms most commonly appear in late adolescence to early adulthood.
Some people with Wilson Disease may not develop signs or symptoms of liver disease until they develop acute liver failure.

Symptoms and Causes

Wilson Disease is a rare inherited disorder that affects about one in 30,000 individuals of any race or ethnicity. Wilson Disease is inherited in an autosomal recessive pattern, which means that the affected individual must receive two copies of an abnormal gene for Wilson Disease, one from each parent. Parents who have only one copy of the abnormal gene are called carriers and usually have no symptoms.

Symptoms of Wilson Disease vary widely from person to person. Some people have no symptoms and are diagnosed through family screening or routine blood tests showing unexplained liver abnormalities. Others develop symptoms involving the liver, brain, or both.

Although Wilson disease is present at birth, symptoms usually appear between ages 3 and 55. In many people, copper builds up silently for years before causing problems.

The liver is often the first organ affected. Liver-related symptoms may include fatigue, nausea, abdominal pain, yellowing of the eyes or skin (jaundice), an enlarged liver or spleen, easy bruising or bleeding, or fluid buildup in the abdomen (ascites). In more advanced disease it can include vomiting blood or black stools. In rare cases, the first sign is acute liver failure, which is a medical emergency.

Copper can also build up in the brain and nervous system, leading to neurologic or behavioral symptoms such as tremors, slurred speech, difficulty swallowing, poor coordination or balance, muscle stiffness, abnormal movements, changes in mood or behavior (including depression or anxiety), difficulty concentrating or a decline in school/work performance.

Some people develop Kayser–Fleischer rings, which are brownish or greenish rings at the edge of the cornea caused by copper deposits and found during a special eye exam (slit lamp). Other findings that may be detected by a healthcare professional include anemia, low platelet or white blood cell counts; or high levels of amino acids, protein, uric acid, and carbohydrates in urine.

Diagnosis and Tests

The diagnosis of Wilson Disease typically requires a combination of tests that are interpreted together, along with a person’s symptoms.

These tests may include:

Blood test for ceruloplasmin, a copper binding protein which is low in most patients
24-hour urine copper, which is often elevated
Eye exam to look for Kayser–Fleischer rings, present in approximately 50% of Wilson disease patients with liver involvement, 95% with neurologic involvement
Liver biopsy to measure copper in the liver, which is elevated in Wilson disease
Genetic testing of DNA to confirm the diagnosis and help test family members

When results are unclear, clinicians may use diagnostic scoring systems to guide evaluation.

Management and Treatment

Treatment for Wilson Disease is aimed at removing excess copper already stored in the body and preventing copper from building up again. When taken consistently, treatment can stop disease progression and often improve liver health.

Most symptomatic patients are treated with medications called chelators (such as penicillamine or trientine), which help remove copper from the body. Patients taking penicillamine long-term also need to take vitamin B6. Treatment for Wilson Disease may also include zinc, which reduces copper absorption from food and is commonly used for long-term maintenance or in people without symptoms. Treatment must be taken lifelong. Stopping medication can allow copper to build up again and cause serious illness.

Dietary changes can support treatment but are not enough on their own. Patients should follow a low-copper diet, which means avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish.

If detected early and treated properly, a person with Wilson disease can enjoy completely normal health. If left untreated, Wilson Disease results in increasing damage to the liver and brain.

Untreated Wilson disease can be fatal.

A liver transplant may be needed if someone develops acute liver failure from Wilson disease or advanced liver disease (cirrhosis) that does not improve with medicine. A liver transplant corrects the underlying copperproblem and is considered curative for Wilson disease, with excellent long-term outcomes.

Gene therapy is a treatment designed to fix or replace genes that do not work properly, but it is not yet available to treat Wilson disease. Wilson disease is caused by a change in the ATP7B gene, which normally helps the liver remove excess copper from the body; when this gene does not work correctly, copper builds up in the liver and other organs. Researchers are studying gene therapy as a possible future treatment, and there may be clinical trials for people with Wilson disease (see section below).

Outlook and Prognosis

With early diagnosis and lifelong treatment, most people with Wilson disease can live full, healthy lives and prevent further damage to the liver and brain. Treatment helps remove excess copper from the body and stop the disease from progressing. However, without treatment, Wilson disease can lead to severe liver and brain damage and may be fatal. In severe cases, such as acute liver failure or advanced liver disease, a liver transplant may be needed and can cure the underlying copper problem.

Prevention

Scientists know that Wilson Disease is a hereditary disease; it is inherited in an autosomal recessive pattern. This means a person must inherit two copies of the altered ATP7B gene (one from each parent) to develop the disease It is not contagious and not preventable. It is also not caused by anything an expectant mother did or did not do.

Living with Wilson Disease

Living with Wilson Disease requires lifelong treatment to remove excess copper from the body and prevent it from building up again. Most patients take medications that help eliminate copper and may also follow a low-copper diet, avoiding foods such as mushrooms, nuts, chocolate, and shellfish. When treatment is taken consistently and the disease is detected early, many people with Wilson Disease can maintain normal health and prevent further damage to the liver and brain.

Questions to Ask Your Doctor

Should others in my family be tested as well?
What diet restrictions should I follow?
Which treatment is best for me: a chelator, zinc, or both?
Can Wilson Disease affect other parts/organs of the body?
Will I have routine labs and/or imaging studies?
Are there other lifestyle changes I should make to slow the progression of the liver disease?
Will I need a liver transplant?
What are signs that my liver disease is getting worse?
Ask about protecting your liver from additional injury by receiving the hepatitis A and B vaccines.

Patient Bill of Rights

As a patient living with a rare liver disease, you have several rights that can empower you throughout your health journey. Although every patient’s diagnosis and treatment plan are different, these rights can help you develop better working relationships with the members of your health care team and determine the best path forward for you. View ALF’s Patient Bill of Rights

Support Groups

Living with Wilson Disease can feel frightening and overwhelming. Patients
and caregivers may benefit from participating in support groups where they can share experiences, learn from others, and receive emotional support.

American Liver Foundation offers virtual (live) support groups for patients, transplant recipients and caregivers as well as Facebook support groups. Click here to learn more and connect.

The following organization has additional resources about Wilson Disease and support:

http://www.wilsonsdisease.org/

Search for a Clinical Trial

Clinical trials are research studies that test how well new medical approaches work in people. Before an experimental treatment can be tested on human subjects in a clinical trial, it must have shown benefit in laboratory testing or animal research studies. The most promising treatments are then moved into clinical trials, with the goal of identifying new ways to safely and effectively prevent, screen for, diagnose or treat a disease.

Speak with your doctor about the ongoing progress and results of these trials to get the most up-to-date information on new treatments. Participating in a clinical trial is a great way to contribute to curing, preventing and treating liver disease and its complications

Support for this page was generously provided by:

Medically Reviewed February 2026

Last updated on March 26th, 2026 at 01:36 pm