The University of Chicago Medicine physicians collaborate closely and work as a team to diagnose and treat Wilson’s disease. Treatment plans for Wilson’s disease depend on the extent of organs involved and overall health of the patient. Your treatment plan will be developed by multiple specialists and designed to fit your specific needs.

What is Wilson’s disease?

Wilson’s disease is a rare, inherited disorder in which copper builds up in the liver. Over time, the extra copper gets into your bloodstream and collects in other organs, such as your eyes and brain. This can damage your organs and become life-threatening. Symptoms may take years or even decades to develop and vary depending on the organs affected.

Treating Wilson’s disease

No cure currently exists for Wilson’s disease, and treatment depends on the severity of your symptoms, your age and your general health. The goal of treatment is to reduce the amount of copper in your body. This can be done by taking copper-chelating medications that help your body’s organs and tissues get rid of extra copper through the urine and by avoiding foods that contain copper.

Frequently Asked Questions about Wilson’s Disease

The symptoms of Wilson’s disease vary depending on the organs that are affected and can be mistaken for other health problems. However, one symptom that is associated with Wilson’s disease is Kayser-Fleischer rings — when brown rings develop around your irises (the colored part of your eyes) due to the build-up of copper. Kayser-Fleischer rings do not cause vision problems and can only be detected during an eye exam. Other symptoms of Wilson’s disease are:

Liver symptoms

  • Extreme tiredness
  • Generalized weakness
  • Loss of appetite
  • Nausea / vomiting
  • Fluid in your belly or legs
  • Yellowish skin or whites of eyes (jaundice)
  • Easy bruising
  • Swollen liver and spleen

Neurological symptoms

  • Changes in behavior
  • Stiff muscles
  • Tremors, shakes or movements you can’t control
  • Slow or repetitive movements
  • Weak muscles
  • Trouble swallowing
  • Slurred speech
  • Poor coordination
  • Drooling
  • Decreased fine motor abilities

Mental health symptoms

  • Feeling stressed and anxious
  • Being depressed
  • Losing touch with reality (psychosis)
  • Thinking about suicide

Other symptoms

  • Weak, fragile bones (osteoporosis)
  • Pain and swelling in joints (arthritis)
  • Low red blood cell count (anemia)

Wilson's disease is caused by an inherited defect in the ATP7B gene. It is an autosomal recessive disorder, meaning each parents must pass the same abnormal gene to the child. Often, parents who have only one abnormal gene show no signs of Wilson’s disease but are nevertheless carriers of it.

Wilson’s disease can be difficult to diagnose; many of the symptoms may be confused with other illnesses. To diagnose the condition, your doctor may ask you to take the following tests:

  • An eye exam using a special machine called a slit lamp to check for Kayser-Fleischer rings in the eyes
  • Blood tests to check the amount of copper in your blood as well as detect any liver problems
  • A 24-hour urine test to determine the amount of copper in your urine over a 24-hour period
  • A liver biopsy, which involves obtaining a small sample of your liver for testing to confirm a diagnosis and determine the severity of liver disease
  • Genetic testing (by blood test) to identify the abnormal genes that cause Wilson’s disease

There is no cure for Wilson disease. However, early treatment can help prevent severe health problems. Lifelong treatment is needed to reduce the amount of copper in your body. Treatment may include:

  • Taking medicines to help your body’s organs and tissues get rid of extra copper (copper-chelating medication)
  • Reducing the amount of copper you take in through food, including avoiding shellfish, chocolate, liver, mushrooms or other foods high in copper
  • Taking zinc supplements to prevent your body from absorbing copper from your diet
  • Treating symptoms caused by damage to your liver or central nervous system
  • Taking medicines to treat muscle tremors or stiffness
  • Receiving a liver transplant if you have severe liver damage

Why Choose UChicago Medicine for Liver Disease Care

Our internationally renowned specialists have extensive expertise in treating common and complex liver diseases.

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