Wilson's disease is a rare inherited disease caused by having too much copper in the body. Copper is found in many foods and in drinking water. Our bodies need copper; but, in Wilson's disease, a buildup of 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 made by the liver that helps the body digest food and do other things. The bile with the copper passes through the digestive system and then leaves the body with other waste products during 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 causes damage to the liver.

After a while, the buildup of copper in the liver is released into the bloodstream. The copper is then carried 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.

Causes of Wilson's Disease

Wilson's disease affects around one out of 30,000 people in the world. We are all born with many genes that make up our bodies. The genes are passed on (inherited) from our parents. Wilson's disease is inherited. It only appears when a person receives the same flawed gene from both parents. If both parents carry a gene for Wilson's disease, there is:

• A 25% chance their child will develop the disorder.
• A 50% chance their child will receive one flawed gene from one of the parents. This means the child will not show symptoms of the disorder but is a "carrier."
• A 25% chance their child will receive both normal genes, one from each parent. They will not be affected.

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.

Signs and Symptoms of Wilson's Disease

Symptoms most often 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. This 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 (this is called ascites)
• 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
• Throwing up blood
• Swelling and pain in the legs and belly due to a buildup of fluid
• Frequent bruising and bleeding (such as nosebleeds) that don't stop quickly
• Lethargy, or tiring easily
• 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 have 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
• Problems swallowing, talking, writing and balancing
• Headache
• Changes in behavior

Some children may have a "sudden onset" of Wilson's disease and become ill suddenly with jaundice, fluid in the belly (ascites), 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).

Diagnosis of Wilson's Disease

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

• A liver biopsy would show high levels of copper in the liver.
• A urine test would show not normal, 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.

Treatment for Wilson's Disease

Wilson's disease is treated with medicine that must be taken 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, such as:

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

Your doctor will check your child's drug therapy through physical exams, measurement of copper in the urine and blood, measurement of liver function, and blood cell counts.

To manage Wilson's disease, the focus of treatment is to reduce the amount of copper absorbed by the body. Taking extra zinc may help block the body's absorption of copper. Patients also take vitamin B6 and follow a low-copper diet. This means avoiding mushrooms, nuts, chocolate, dried fruit, liver and shellfish.

Sometimes this drug therapy does not get rid of the high amounts of copper in the body. Liver transplant surgery may be needed for those with acute liver failure or very advanced liver disease. If a liver transplant is needed, the care team will treat symptoms and work to prevent complications while waiting for a donated liver.

Long-Term Outlook for Children with Wilson's Disease

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

But diagnosis is often delayed because Wilson's disease is so rare and symptoms can be hard to detect. To avoid permanent brain damage, it is vital to diagnose Wilson's disease early.

A liver transplant can save the life of a patient with liver failure caused by Wilson's disease. Children with Wilson's disease account for about 2% 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%.

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.