To stay healthy, we all need a small amount of copper—which is found in many foods. But too much of the metal is toxic. For people with Wilson disease, the body is unable to properly metabolize copper and it builds up to dangerous levels. The excess copper can damage the liver, brain and other organs causing a wide range of physical signs and symptoms as the disease progresses. Patients may experience abnormal tests, liver failure, or severe neurologic or psychiatric disorders.
With early detection and treatment, however, neurological and psychiatric problems can be prevented, and people with Wilson disease can live full and healthy lives. Unfortunately, the disorder often advances without causing noticeable symptoms. Our physicians at Yale Medicine are internationally recognized for our multidisciplinary treatment of Wilson disease, which includes diagnosis, management, and clinical trials.
Wilson disease is rare. While older studies have estimated 1 in 30,000 people worldwide have it, newer studies of people's genes show it may be more common, and one study in the United Kingdom showed as many as 1 in 7,000 people have the gene mutation that is associated with Wilson disease.
Many doctors aren’t familiar with the symptoms that can be wide-ranging. “Patients can have a constellation of problems in addition to liver injury, including neurological and mental health issues,” explains Michael Schilsky, MD, a Yale Medicine liver specialist and medical director for Adult Liver Transplant at Yale New Haven Transplantation Center. At Yale, we have adult and pediatric liver, neurologic, psychiatric, and transplant specialists. We are the only Center of Excellence, designated by the Wilson Disease Association, in the Northeast.