Wilson disease is a genetic, or inherited, condition. A mutation, or defect, in your ATP7B gene prevents your body from properly getting rid of extra copper in your system. Copper, which you consume in your diet, is one of the many minerals your body needs in small amounts. However, too much copper is toxic.
Normally, your liver sends excess copper out of your body in bile, the digestive juice your liver manufactures. Wilson disease prevents your liver from functioning normally. Instead of getting rid of the mineral, your liver starts storing it. Eventually, the buildup is more than the liver can hold, and the excess copper gets into your bloodstream and collects in other organs, even your eyes and brain. This buildup of copper begins when you're born, but it can take years or even decades for symptoms to appear.
The symptoms of Wilson disease depend on the organs involved. Rusty brown rings around the iris of your eye, called Kayser-Fleischer rings, are the most significant symptom. The copper buildup causes these rings, which affect about half of all people with Wilson disease. Wilson disease may attack your central nervous system, as well as your liver, sometimes at the same time. As a result, you may have a collection of seemingly unrelated symptoms.
Symptoms can appear at any time in life, although they usually start between ages 5 and 35. Liver symptoms tend to appear in late childhood or adolescence, whereas neurological symptoms appear in adulthood.
Liver symptoms include:
Fluid in your belly or legs
Jaundice (yellowish skin or whites of eyes)
Swollen liver and spleen
Neurologic symptoms include:
Changes in behavior
Tremors, shakes, or motions you can’t control
Slow or repetitive movements
Loss of muscle tone
Decreased fine motor abilities
Psychological changes, such as psychosis, neurosis, or suicidal thoughts
Other miscellaneous symptoms you might experience are:
Early changes in bone density or joints
Unhealthy levels of amino acids, proteins, carbohydrates, and uric acid in your urine
Lower-than-normal levels of platelets or white blood cells
Wilson disease is rare, affecting just one in 40,000 people. Both of your parents need to carry the mutation of the ATP7B gene, in order for you to get it. If only one parent has it, you may inherit the gene, but never develop the disease. Wilson disease affects men and women equally.
To diagnose the condition, your physician will consider:
Your overall health and medical history
Your description of symptoms
A physical exam
Blood and urine tests
There is no cure for Wilson disease. Lifelong treatment is necessary and could include:
Taking copper-chelating medications, which help your body’s organs and tissues get rid of excess copper
Reducing the amount of copper you get through food
Taking zinc supplements. Zinc prevents your body from absorbing copper from your diet
Getting extra vitamin B6
Treating any damage to your liver or central nervous system (or both)
Taking medications to treat symptoms, such as muscle problems (tremors, stiffness)
Getting a liver transplant, if you have extensive liver damage. This procedure has about an 80 percent survival rate.
Complications are problems that your condition causes. Wilson disease can lead to various liver-related problems, including liver damage, hepatitis, cirrhosis, and liver failure. You could have difficulty functioning because of neurological symptoms. Brain damage is a possibility. And Wilson disease can be fatal.
There is no cure for Wilson disease. However, with genetic counseling, you might be able to determine whether your current or future children are at risk of developing it. Your health care provider may recommend genetic testing, if there is a strong family or personal history of the condition. Siblings of someone with Wilson disease should be tested; so should more distant relatives who have neurological or liver symptoms that could be related to Wilson disease.
Call your doctor if you experience:
Worsening psychological symptoms, including thoughts of suicide
Indications of possible liver failure, such as:
Increased confusion or disorientation
Your doctor may suggest medication to help keep copper under control. You may also need dietary changes to help reduce your copper intake, including:
Limiting or avoiding mushrooms
Limiting or avoiding nuts
Limiting or avoiding chocolate
Avoiding multivitamins that contain copper
You should test your drinking water for copper, or find a source of water that is free of copper. It's also important to return to your doctor for regular follow-up visits and lab tests, to make sure your copper levels are under control.
If you want to get pregnant, or are pregnant, tell your doctor. You may need to change your medication dosages, so you can have a healthy pregnancy.
Also, talk with your doctor about other steps you can take to keep your liver healthy, such as getting vaccinated against hepatitis A and B.