What is Wilson Disease?
Wilson disease is a disorder that causes too much copper to collect in the liver, brain and other organs.
Copper is found in most foods. Small amounts of copper are needed for the body’s normal functions. Any extra copper is usually removed by the liver. But when a person has Wilson disease, the liver is not able to remove extra copper from the body. Having too much copper can hurt you.
An inherited disorder
If you have Wilson disease, you inherited one abnormal gene from your father and one from your mother. This gene controls a protein that moves copper around within the liver.
People who inherit an abnormal gene from one parent do not get Wilson disease, but they are carriers of the abnormal gene. They could pass a copy of the abnormal gene to their children. About 1 in 400 people are carriers of the abnormal gene.
Wilson disease affects about one in 30,000 people worldwide.
How the Liver Works
The liver performs hundreds of tasks every day to help keep you healthy. One of those tasks is to help you digest food. To do that, the liver produces bile, a brown liquid that mixes with the food.
Usually, the liver “notices” extra copper and moves it into the bile, so it can be removed from the body. The only way copper has to get out of the body is to be removed by bile. But if you have Wilson disease, the copper can’t get to the bile, so the copper isn’t removed from the body.
What are the risks of not treating the disease?
When too much copper builds up in the liver, the liver is damaged. Eventually, some extra copper might travel into the body, where it could damage the brain, eyes, kidneys, and red blood cells. If this disorder is not treated, it could lead to sudden or long-term liver failure. Permanent brain damage is also possible. Wilson disease is always fatal if it is not treated.
Symptoms of Wilson Disease
The major symptoms of Wilson disease affect three parts of the body — liver, brain and nerves.
Wilson disease may look like other liver diseases. Possible symptoms include:
• Yellowing of the skin, known as jaundice
• Feeling tired
• Swelling or pain in the belly (abdomen)
Sometimes, the liver damage gets worse without obvious symptoms. If a person isn’t aware of the condition and treatment isn’t started early enough, Wilson disease can cause problems in the liver, including acute hepatitis and cirrhosis. Other serious symptoms include vomiting blood or building up fluid in the abdomen or legs.
Nerve system problems
The body’s nerve system is also called the nervous system or the neurological system. The nervous system takes messages from the brain and delivers them to the rest of the body. This system also carries messages from the body back to the brain.
When too much copper builds up in the brain, the brain may be injured.
Symptoms related to this brain damage may include:
• Difficulty speaking, slurred speech or both
• Shaking in the arms or legs, known as tremors
• Muscle spasms
• Muscle stiffness
• Problems with balance and walking
• Difficulty swallowing
Personality and mood problems
Personality and mood symptoms may range from mood changes to serious problems with thinking or behavior. Symptoms may include:
• Sudden personality changes
• Strange behavior that is not appropriate
• Failing at school or work
When Do Symptoms Usually Appear?
Symptoms of Wilson disease usually appear between the ages of 6 and 20, after enough copper has built up in the body. However, some people have been diagnosed in their 50s and 60s.
How is Wilson Disease Identified?
It is important to identify (diagnose) Wilson disease as early as possible. Serious liver or brain damage can happen before there are signs of the disease. Many people are diagnosed with Wilson disease only after serious liver or neurological problems occur.
To identify this disease, health care providers look at your symptoms and the results of medical exams and tests. Some or all of the following tests and exams may be used:
• Blood and urine tests. These tests check for a protein in blood that attaches itself to copper. That protein, called ceruloplasmin, is usually too low in people who have Wilson disease.
• Eye exam. During this exam, an eye specialist looks for a brown ring in the clear part of the front of the eye, known as the cornea. This ring is called a Kayser-
• Liver biopsy. During a needle biopsy, a needle is inserted briefly into the right side of your abdomen. Local anesthetic is used. The needle is used to take a small sample of your liver tissue. The tissue is examined to look for extra copper and liver damage.
• Gene test. A blood test can check the gene associated with Wilson disease, to see if there are changes (mutations) in the gene that might cause Wilson disease.
Testing before symptoms begin
Brothers and sisters of a person who has Wilson disease have a one in four chance (a 25 percent chance) of having the disease. Children of a person who has Wilson disease have a one in 200 chance of having the disease. All of these family members should be tested for Wilson disease.
How is Wilson Disease Treated?
Treatment for Wilson disease is most helpful if it is started before life-threatening symptoms begin. With diet changes and medicine, the disease’s progress may be stopped, and many symptoms may be improved. However, it may not be possible to reverse some damage done to the body.
Individuals diagnosed with Wilson disease must take medicine to block the damage that extra copper does to the body. A zinc pill taken by mouth is also effective to prevent copper absorption from food.
If you are told you have Wilson disease, avoid high-copper foods such as liver, shellfish and certain nuts. Ask your health care provider for a list of these foods.
With early diagnosis and proper care, the long-term outlook and life expectancy are usually good. Lifelong treatment is needed, even if you have no symptoms of disease.