Wilson disease involves the buildup of copper in your vital organs. Copper is important for healthy development of the nervous system, the bones, and the skin. Most people get their daily recommended dose of copper from their diet and are able to excrete any that they do not use. If you have Wilson’s disease, you are not disposing of copper properly. Instead, it builds up in the body with potentially life threatening effects. Wilson’s disease is treatable, and it’s possible to live a normal life with Wilson’s disease.
Common symptoms include:
Wilson’s disease is present when a baby is born, but signs and symptoms do not appear until enough copper has built up in the body. Seek medical help if you have physical symptoms that worry you, especially if a family member has Wilson’s disease.
Wilson’s disease is inherited from your parents in a recessive pattern. This means that for you to get the disease, you must inherit one copy of the mutated gene from each parent. If you receive one copy of the normal gene and one copy of the mutated gene, you will be a carrier but show no symptoms of the disease.
Risk factors for Wilson’s disease include having family members that have the disease.
Because Wilson’s disease can mimic symptoms of other liver diseases, it can be hard to diagnose. Your healthcare provider will use a combination of physical examination, medical history, and testing to confirm a definitive diagnosis.
Some tests your doctor may use include:
Complications of Wilson’s disease include liver scarring, liver failure, neurological issues, kidney problems, blood problems, and mood disorders.
Treatment for Wilson’s disease focuses on moving copper out of the body and preventing it from building up.
Many people with Wilson’s disease take chelating agents, which bind copper and encourage it to be released from the organs and out of the body. Many people take chelating agents their entire lives.
Surgery may also become a treatment option if you have Wilson’s disease and need a liver transplant.
Wilson’s disease requires lifelong management. Some things you can do at home are restrict the amount of copper in the diet by avoiding foods like shellfish, mushrooms, nuts, and chocolate, test your water for copper or filter the water you drink, and avoid vitamins with copper in them.