Wilson disease is a genetic disorder where large amounts of copper build up in the body. It is caused by a mutation in the ATP7B gene that produces the copper-transporting protein. The disease was first discovered in 1912 by Dr. Samuel Alexander Kinnier Wilson.

How many people are affected by this disease? It affects about one in 30,000 people worldwide. There is an estimate of only 6,000 people in the US have it.

Wilson disease affects the liver and brain first. Symptoms range and depend on what part of the body is affected. Symptoms from the liver include: Jaundice, fatigue, appetite loss, abdominal swelling, and easy bruising. Symptoms from the brain and nervous system include: Clumsiness, difficulty walking, speech problems, mood swings, depression, and anxiety. Eye change and vision problems may occur. Brown rings around the iris called Kayser-Fleischer rings are most likely to appear. Wilson disease may also cause low levels of red and white blood cells, slow blood clotting, high protein levels, and bone loss.

Wilson disease is diagnosed through physical exams and laboratory tests. The most common way of telling if one has the disease is seeing that they have the Kayser-Fleischer rings around the eyes. Tests that measure the amount of copper in the body are also preformed. A liver biopsy may happen to see if there is liver damage caused by the disease.

There are treatments for Wilson disease. Patients can be treated with medication. The medications for Wilson disease are called chelators. They work to remove the copper from the body. The patient will need to take this medication for the remainder of their life. Without the treatment, the disease is fatal.

Wilson disease can only be inherited. It is an autosomal recessive disease. Both parents had to pass down a carrier gene for their child to get the disease.

Current research: Studies are being conducted to find new and better treatments for patients. They are working on new technology to catch the signs of the disease sooner. Testings for the disease are not very common since it is rare so they plan to make testing more widespread.