Wilson's Disease

Wilson's disease is a rare inherited disease that is caused by having too much copper in the body. Copper is a substance found in many foods and in drinking water. Copper is important to our bodies in some ways; however, in Wilson's disease, accumulated copper harms the liver and other organs.

In a healthy person, the liver gets rid of copper by releasing it into bile. (Bile is a liquid produced by the liver that helps the body digest food and do other things.) The bile containing the copper passes through the digestive system and then leaves the body with other waste products when a person has a bowel movement.

The liver of a person who has Wilson's disease does not release copper into bile as it should. Instead, the copper builds up and damages the liver.

After a while, the buildup of copper in the liver is released into the bloodstream, which carries the copper throughout the body. This copper can cause damage in the kidneys, brain and eyes. If not treated, Wilson's disease can cause liver failure, brain damage and even death.

Wilson's disease affects approximately one out of every 30,000 people in the world.

Every person is born with many genes that make up their body. The genes are passed on (inherited) from their parents. Wilson's disease is an inherited condition. It does not appear unless a person receives the same defective gene from both parents. If both parents carry an abnormal gene for Wilson's disease, there is:

  • A 25 percent chance their child will develop the disorder 
  • A 50 percent chance their child will receive one defective gene from one of the parents, which means the child will not show symptoms of the disorder but is a "carrier" 
  • A 25 percent chance their child will receive both normal genes, one from each parent, and will be unaffected

If one person in a family has Wilson's disease, a DNA test often can tell if other family members are affected, if they are carriers or if they are not affected.

Symptoms usually appear between the ages of 6 and 20 years, but can begin later in life. One sign of Wilson's disease is the Kayser-Fleischer ring, which is a rusty brown ring around the outer part of the eye that can be seen only through an eye exam.

Many other signs also would be noticed only by a doctor, such as:

  • Swelling of the liver and spleen and liver failure 
  • Fluid buildup in the lining of the belly 
  • Anemia (when the number of red blood cells in a person's blood falls below normal) 
  • Low platelets and the number of white blood cells in the blood 
  • High levels of amino acids, protein, uric acid and carbohydrates in urine

Some symptoms are more obvious, such as:

  • Jaundice, which appears as yellowing of the eyes and skin 
  • Vomiting blood 
  • Swelling and pain in the legs and belly due to a buildup of fluid 
  • A lot of bruising and bleeding (such as nosebleeds) that don't stop quickly 
  • Tired often 
  • Loss of appetite 
  • Weight loss

Symptoms depend on how quickly the disease progresses and where the damage occurs -- in the liver, blood, central nervous system, urinary system or musculoskeletal system. The signs of Wilson's disease can be mild and may come and go over months or years, or they may be ongoing.

Half of all patients experience their first symptoms due to deposits of copper in the brain and nervous system. These symptoms include:

  • Speech and language problems 
  • Tremors, or shaking in the arms and hands 
  • Tightening of the muscles 
  • Drooling 
  • Difficulty swallowing, talking, writing and balancing 
  • Headache 
  • Changes in behavior

Some children may experience a "sudden onset" of Wilson's disease and become ill quite suddenly with jaundice, fluid leaking in the belly, swelling of the brain and anemia. This sometimes leads to acute liver failure (when many of the cells in the liver die or become very damaged in a short period of time) and requires liver transplantation.

Wilson's disease is diagnosed through tests that measure the amount of copper in the liver, urine and blood.

  • A liver biopsy would reveal high levels of copper in the liver. 
  • A urine analysis would show abnormally high levels of copper in the urine. 
  • Blood tests would show low levels of ceruloplasmin, a copper protein. 
  • An eye exam would detect the Kayser-Fleischer ring.

Wilson's disease is treated with medications, or "drug therapy." This must be continued for life. For patients who have symptoms, the first goal of treatment is to remove as much copper from the body as possible. This is done with medicines called D-penicillamine or trientine hydrochloride. It may be weeks before it is clear whether the treatment worked.

These drugs may have some serious side effects, including:

  • Pain in the joints 
  • Neurological problems that affect mental abilities 
  • Problems with blood clotting 
  • Allergic reactions

Your doctor will monitor your child's drug therapy through physical exams, measurement of copper in urine collection, blood tests that show the amount of copper in the blood, measurement of liver function and blood cell counts.

For patients without symptoms, and for patients initially treated with medications to reduce the amount of copper in the body, the focus becomes preventing the body from taking in too much copper. Taking extra zinc may help block the body's absorption of copper. Patients also will need to take vitamin B6 and follow a low-copper diet, which means avoiding mushrooms, nuts, chocolate, dried fruit, liver and shellfish.

When this drug therapy is not successful in getting rid of the high amounts of copper in the body, liver transplantation may be required for those with very advanced disease.

Liver transplantation is very effective in the treatment of patients with advanced liver disease caused by Wilson's disease. If a transplant is the best treatment option, the care team will focus on preventing complications and treating symptoms while awaiting a donated liver.

Individuals with Wilson's disease must continue their treatment for life. If the disorder is detected early and treated correctly, the child can expect a life of normal length and good quality.

Diagnosis is often unfortunately delayed because Wilson's disease is so rare and symptoms can be hard to detect. To avoid permanent brain damage, it is important to diagnose Wilson's disease early, especially before Kayser-Fleischer rings appear in the eyes.

Liver transplantation can save the life of a patient with liver failure caused by Wilson's disease. Children with Wilson's disease account for about 2 percent of all liver transplants done in children.

The survival rate for children with liver failure caused by Wilson's disease who have a liver transplant is as high as 90 percent.

Liver transplant recipients can expect an 85 percent five-year survival. Neurologic recovery (mental status) depends on the level of brain damage at the time of transplant. The less damage suffered prior to transplant, the better the chance for recovery.


Last Updated 10/2012