Wilson's disease, also called hepatolenticular degeneration, prevents the body from removing extra copper. Small amounts of copper encourage the healthy development of collagen, bones, nerves and melanin, skin pigmentation. Extra amounts of copper throughout the body, however, can be fatal. A buildup of copper causes Wilson's disease, which then leads to biological and neurological difficulties.
Symptoms
The neurological symptoms of Wilson's disease include muscle stiffness, difficulties with swallowing, speech or physical coordination problems, tremors and changes in behaviors. Liver disease symptoms related to Wilson's disease may include jaundice, swelling of the spleen or liver, fatigue, fluid buildup in the abdomen and legs, and easy bruising. Wilson's disease may affect the liver, the nervous system or both.
Causes
A mutation in the ATP7B gene causes problems with a protein that removes excess copper from the liver. This buildup of copper leads to Wilson's disease.
Frequency
Wilson's disease affects men and women equally. Approximately one in 40,000 people receives the Wilson's disease diagnosis.
Complications
Wilson's disease can lead to cirrhosis of the liver, liver cancer, kidney problems and neurological difficulties.
Treatment
First, Wilson's disease patients must eliminate copper by taking chelating agent medications. An additional medication to treat Wilson's disease, zinc acetate, prevents further copper absorption. In severe cases of liver deterioration, a liver transplant may be required.
