What is Wilson's Disease?

Wilson's disease is a liver disorder brought on by inherited genetic mutations. The condition is a basic inability of the liver to properly process and expel copper from the body. In severe cases, the condition can cause organ damage, including neurological problems disease can be treated and generally monitored, but cannot be cured.

The illness is named for the first doctor to describe the condition, neurologist Samuel Alexander Kinnier Wilson. Using research from prior findings, Dr. Wilson was able to recognize the regular symptoms as part of the disease in a 1912 paper. The connection with buildup from copper was made in 1948 by Professor J. Cummings, while the specific genetic mutation that causes Wilson's disease was confirmed in the 1990s by several genetic researchers.

Copper is a naturally-occurring substance found in many foods, such as mushrooms and chocolate. In a healthy human system, the ATP7B gene regulates the safe release of accumulated copper from the liver. People with Wilson's cannot safely process copper, leading the body to release large amounts into the bloodstream that are then carried to other organs, particularly the brain and kidneys.

Patients with Wilson's disease may be initially asymptomatic, with the condition manifesting generally between ages 5-35. The disease does have several distinct symptoms that may appear in any combination. Jaundice, fluid buildup in extremities, low white blood cell counts, and easy bruising are all commonly found with a developing Wilson's condition. Many patients also develop a brown ring around the iris of their eyes, known as a Kayser-Fleisher ring.

In severe cases where the buildup has affected the central nervous system, speech may become impeded. Patients may suffer from uncontrollable muscle spasms, or even sudden mood swings. Anyone exhibiting these symptoms should seek medical care at once, before permanent organ damage occurs.

Treatment for severe copper buildup caused by Wilson's disease often includes the use of pharmaceutical drugs that quickly remove copper from the body. Unfortunately, the drugs typically used can cause severe allergic reactions and even worsen neurological symptoms. Once a normal level of copper is re-established, care typically includes eating copper-rich foods in very low amounts, and taking zinc supplements to help regulate copper absorption. Patients may undergo periodic blood or urine tests to check copper levels.

Screening for Wilson's disease is recommended for anyone with relatives who have the condition. As a genetic disorder, it is more likely to be passed from parent to child. Anyone with symptoms of liver disease, or neurological symptoms and liver disease symptoms, should be screened at once. Detecting the condition early can prevent severe build-up, and allow patients to live a healthy life.