About the condition
What is Wilson's disease?
Wilson's disease is a rare inherited disorder in which the body cannot get rid of extra copper. It is caused by changes in the ATP7B gene, which normally helps the liver release copper into bile. Without treatment, copper builds up in the liver, brain, eyes, and other organs and can cause serious damage.
Symptoms usually first appear between ages 5 and 35. They can involve the liver (fatigue, jaundice, abdominal swelling), the nervous system (tremor, stiffness, trouble speaking or swallowing), and mood or behavior. Some people develop Kayser-Fleischer rings, golden-brown rings at the edge of the cornea. Doctors diagnose the condition with blood and urine copper tests, an eye exam, genetic testing, and sometimes a liver biopsy.
Wilson's disease is treatable. Medicines either remove copper from the body (chelating agents such as penicillamine and trientine) or block its absorption (zinc), and a low-copper diet helps keep levels down. With early diagnosis and lifelong treatment, people with Wilson's disease can lead healthy, active lives.