Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.
Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and any excess is excreted through bile — a substance produced in your liver.
But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. When diagnosed early, Wilson's disease is treatable, and many people with the disorder live normal lives.
Liver disease is typically the initial feature of Wilson disease in affected children and young adults; individuals diagnosed at an older age usually do not have symptoms of liver problems, although they may have very mild liver disease. The signs and symptoms of liver disease include yellowing of the skin or whites of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling.
Nervous system or psychiatric problems are often the initial features in individuals diagnosed in adulthood and commonly occur in young adults with Wilson disease. Signs and symptoms of these problems can include clumsiness, tremors, difficulty walking, speech problems, impaired thinking ability, depression, anxiety, and mood swings.
In many individuals with Wilson disease, copper deposits in the front surface of the eye (the cornea) form a green-to-brownish ring, called the Kayser-Fleischer ring, that surrounds the colored part of the eye. Abnormalities in eye movements, such as a restricted ability to gaze upwards, may also occur.
Wilson disease is a genetic disorder that is fatal unless detected and treated before serious illness from copper poisoning develops. Wilson disease affects approximately one in 30,000 people worldwide. The genetic defect causes excessive copper accumulation in the liver or brain. Symptoms typically begin between the ages of 12 and 23.
Small amounts of copper are as essential as vitamins. Copper is present in most foods and most people have much more copper than they need. Healthy people excrete copper they don't need but Wilson disease patients cannot.
Copper begins to accumulate immediately after birth. Excess copper attacks the liver or brain, resulting in hepatitis, psychiatric, or neurologic symptoms. The symptoms usually appear in late adolescence. Patients may have jaundice, abdominal swelling, vomiting of blood, and abdominal pain. They may have tremors and difficulty walking, talking and swallowing. They may develop all degrees of mental illness including homicidal or suicidal behavior, depression, and aggression. Women may have menstrual irregularities, absent periods, infertility, or multiple miscarriages. No matter how the disease begins, it is always fatal if it is not diagnosed and treated.
The first part of the body that copper affects is the liver. In about half of Wilson disease patients the liver is the only affected organ. The initial physical changes in the liver are only visible under the microscope. When hepatitis develops, patients are often thought to have infectious hepatitis or infectious mononucleosis when they actually have Wilson disease hepatitis. Testing for Wilson disease should be performed in individuals with unexplained, abnormal liver tests.