Wilson's disease


Wilson's disease is a rare inherited disorder that causes copper to accumulate in the liver, brain, and other vital organs. In individuals with Wilson's disease, copper is not eliminated properly and instead accumulates, possibly to a life-threatening level. Left untreated, Wilson's disease is fatal. When diagnosed early, Wilson's disease is easily treated, and many people with the disorder live normal lives. Copper can accumulate in and damage the liver.
Wilson's disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Wilson's disease affects less than 200,000 people in the U.S. population.
Copper is necessary for the growth, development, and maintenance of bone, connective tissue, brain, heart, and many other body organs. Copper is involved in the formation of red blood cells, the absorption and utilization of iron, and the synthesis and release of proteins and enzymes. These enzymes in turn produce cellular energy and regulate nerve transmission, blood clotting, and oxygen transport. Copper helps stimulate the immune system to fight infections, repair injured tissues, and to promote healing. Copper also acts as an antioxidant, helping to neutralize "free-radicals" that can cause severe damage to cells. Copper is involved in the functioning of the nervous system, in maintaining the balance of other useful metals in the body such as zinc and molybdenum, and possibly other body functions. Copper is a natural ingredient in many foods. It is typically present in mineral rich foods like vegetables (potatoes), legumes (beans and peas), nuts (peanuts and pecans), grains (wheat and rye), fruits (peach and raisin), and chocolate.
If an individual is supplementing their diet with zinc, it is especially important to take copper supplements; zinc interferes with the body's ability to absorb copper. Most multiple vitamins contain zinc and copper, but some do not include copper. For most individuals, 1-2 milligrams of copper daily is sufficient. Individuals with poor diets, often including the elderly who may not able to care for themselves and people in places where it is difficult to get proper nutrition, may not take in enough copper to meet the body's needs. In addition, a small number of individuals in rare cases have genetic sensitivities that make it difficult for them to either absorb copper when the body needs it (Menke's disease), or get rid of it when the body does not need it (Wilson's disease).
Because copper first accumulates in the liver, most individuals with Wilson's disease initially have signs of liver damage, including abdominal pain and yellowing of the skin and whites of the eyes (jaundice).
The liver is the largest solid organ in the body and is essential in keeping the body functioning properly. The liver is located in the upper right-hand side of the abdomen. It performs many functions in the body, including processing the body's nutrients, manufacturing bile to help digest fats, synthesizing many important proteins, regulating blood clotting, and breaking down potentially toxic substances into harmless ones that the body can use or excrete. Inflammation may (in severe cases) interfere with these processes and allow potentially toxic substances to accumulate. Liver cells, called hepatocytes, become damaged and cannot filter toxins from the blood as effectively. These toxins build up, causing further liver damage.
The liver is able to regenerate or repair up to two-thirds of injured tissue, including hepatocytes (liver cells), biliary epithelial cells, and endothelial cells. Healthy cells take over the function of damaged cells, either indefinitely or until the damage is repaired.

Related Terms

Alanine aminotransferase, alcoholic steatohepatitis, alkaline phosphatase, ALP, ALT, antioxidant, aspartate aminotransferase, AST, autosomal recessive trait, bile, bilirubin, ceruloplasmin, cirrhosis, computerized tomography, copper, CT, depression, dysarthria, dysphagia, fatty liver, fibrosis, fulminant liver failure, hepatitis, hepatitis vaccine, jaundice, Kayser-Fleisher ring, liver, liver biopsy, liver transplant, magnetic resonance imaging, Menke's disease, molybdenum, MRI, NASH, nonalcoholic steatohepatitis, transferrin, vaccine, zinc.