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Wilson Disease

  • The body is unable to metabolize copper, causing it to build to dangerous levels
  • Symptoms include Jaundice, fatigue, loss of appetite, abdominal swelling, and tremors
  • Treatments include chelating agents, low copper diet, sometimes liver transplant
  • Involves digestive diseases, gastroenterology & hepatology
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Wilson Disease


To stay healthy, we all need a small amount of copper, which is found in many foods. But too much of the metal is toxic. 

For people with Wilson disease, the body is unable to properly metabolize copper and it builds up to dangerous levels. The excess copper can damage the liver, brain and other organs causing a wide range of physical signs and symptoms as the disease progresses. Patients may experience abnormal tests, liver failure, or severe neurologic or psychiatric disorders.

With early detection and treatment, however, neurological and psychiatric problems can be prevented, and people with Wilson disease can live full and healthy lives. Unfortunately, the disorder often advances without causing noticeable symptoms. Our physicians at Yale Medicine are internationally recognized for our multidisciplinary treatment of Wilson disease, which includes diagnosis, management, and clinical trials.

Wilson disease is rare. While older studies have estimated 1 in 30,000 people worldwide have it, newer studies of people's genes show it may be more common, and one study in the United Kingdom showed as many as 1 in 7,000 people have the gene mutation that is associated with Wilson disease.

Many doctors aren’t familiar with the symptoms that can be wide-ranging. “Patients can have a constellation of problems in addition to liver injury, including neurological and mental health issues,” explains Michael Schilsky, MD, a Yale Medicine liver specialist and medical director for Adult Liver Transplant at Yale New Haven Transplantation Center. At Yale, we have adult and pediatric liver, neurologic, psychiatric, and transplant specialists. We are the only Center of Excellence, designated by the Wilson Disease Association, in the Northeast.  

What is Wilson disease?

Wilson disease is a rare inherited disorder in which the body is unable to rid itself of extra copper. Copper is found in many foods, including meat (liver), seafood (shellfish), nuts, seeds, grain, and cocoa products. 

Typically, the body stores some copper in the liver, but under normal circumstances, excess copper is excreted into the gut through bile formed by the liver. But if you have Wilson disease, the copper accumulates in your liver and then is released directly into your bloodstream—thereby damaging your liver, brain, and other organs. 

What are the symptoms of Wilson disease?

Wilson disease is an inherited disease and is present at birth. Symptoms typically arise in childhood or adolescence though sometimes may not even be noticeable until well into adulthood. Some of the oldest patients to be diagnosed were in their 80s, but most patients present by age 45. 

The disease first attacks the liver and then the central nervous system—but both may be affected simultaneously, causing liver, neurological, and psychiatric problems. A rusty brown halo around the eye’s cornea known as a Kayser Fleischer ring is a common sign of the disease but may not be present early on.

Signs and symptoms of liver disease include:

  • Yellowing of the skin or whites of the eyes (jaundice)
  • Fatigue
  • Loss of appetite
  • Abdominal swelling

Nervous system and psychiatric signs and symptoms can include:

  • Tremors
  • Difficulty walking
  • Loss of coordination
  • Speech problems
  • Impaired thinking
  • Depression, anxiety and mood swings

“Wilson disease has an incredible spectrum of symptoms that can range from an abnormal liver test to full-out liver failure to dystonia (involuntary muscle contractions) and other neurological disorders, and all the way from mood alteration to psychosis,” says Dr. Schilsky, who is also a professor of medicine (digestive diseases) and of surgery (transplant) at Yale School of Medicine. “Spreading awareness of this disease among physicians is key because if you don’t think about it, you never diagnosis it. And early diagnosis can prevent disease progression.”

How is Wilson disease diagnosed?

A physical exam (for example, a slit-lamp exam looking at the eyes for copper deposits) and laboratory tests can accurately diagnose Wilson disease. Your doctor may order a 24-hour urine test to check for copper, or perform a liver biopsy to measure copper there, too. A blood test can also reveal the genetic mutations that cause Wilson disease.  

How is Wilson disease treated?

Treatment is geared around removing the extra copper from your body and preventing it from accumulating again. 

The first step is to take chelating agents, which are medications that force your organs to release copper into the bloodstream. It then gets filtered out of the blood in the kidneys and released when you urinate. Some newer agents may also increase copper excretion into bile. Patients may also take zinc salts to block the absorption of copper by the intestinal tract.

Once symptoms are under control and copper levels normalize, lower doses of chelating agents or zinc may be used as a maintenance therapy to prevent copper build-up. Patients should also follow a low-copper diet, check to see how much copper is in their drinking water (especially if their pipes are made of copper) and avoid multivitamins or other supplements that contain copper.

Patients with acute liver failure or advanced liver disease due to Wilson disease may require a liver transplant. However, only about 5 percent of patients with Wilson disease present with acute liver failure with severe liver damage, Dr. Schilsky says. For those who do require a transplant, Yale New Haven Transplantation Center is a nationally credited Organ Transplantation Center performing both living and deceased donor transplantation.

What makes Yale Medicine’s approach to treating Wilson disease unique?

When it comes to treating Wilson disease, Yale Medicine is a worldwide leader and one of only a few sites around the world participating in clinical trials for this disorder.

“Wilson (an American neurologist who trained in Great Britain) first wrote about the disease in 1912, and there have been major advances in our understanding of it, but there are still gaps,” he says. “We are making great advances.”

Also important to patients with this condition, Yale Medicine is home to many specialists who can contribute to treatment. We work closely with pediatric liver experts to diagnose children earlier and start treatment to prevent long-term damage.

Our liver specialists collaborate with colleagues in psychiatry and neurology to work with patients as symptoms develop as a result of the disease. Our dietiicans have provided consultation for our patients as well. Plus, our neurologists who are movement disorder specialists are working to develop techniques to identify new methods for evaluating disease in patients that may be useful for both clinical trials and improving the quality of life for patients.