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Wilson's Disease

Wilson's Disease (WD) is a genetically inherited disorder that affects the way the human body metabolizes copper. Copper is essential to body metabolism and when there is too much or too little, problems arise. Wilson's Disease disables the body's ability to properly dispose of copper and accumulation begins to cause damage to internal organs. Globally it is understood that one in 30,000 individuals actively have the disease and that it is most common in communities where consanguineous marriage (mating between blood relatives) is common. In the developing world many issues can arise from late or no diagnosis and complete lack of definitive treatment. If left untreated Wilson's Disease is fatal. Dr. Samuel Wilson first described the disease in a scientific paper in 1912 and treatment began in the 1950's.

The accumulation of copper begins at birth. Copper should be excreted by the liver and with WD it is retained and accumulates. The accumulated copper causes damage and inflammation or hepatitis develops. If left untreated, the liver becomes so damaged that copper will enter the bloodstream and cause damage to other organs including the kidneys, eyes, bone and the brain and eventual death. Major symptoms generally develop during adolescence.

Genetic Disorder

WD is an autosomal recessive (not sex-linked) disease and can occur equally in men and women. The gene that carries WD is passed down to the offspring by both parents. Two abnormal genes are required to have the disease. If one child has only one gene from one parent, they will not show signs of the disease. WD affects all races and no nationalities or regions are immune. The related gene is located on chromosome 13 and linked to copper transport ATP7B. Mutations can occur anywhere on the 21 exons and to date more than 200 different mutations have been identified.

Some cases of WD can occur due to spontaneous mutations. Most patients have no family history of WD. People with only one abnormal gene are called carriers. Furthermore, it has been noted that het-erozygote's (gene carriers who do not show signs of the disease) may have mild abnormalities of copper metabolism. This conclusion is still controversial and under review by the National Academy of Sciences and may be closely linked to increased copper in the diet or drinking water.

It has been difficult to devise a simple genetic screening test for the disease due to so many mutations. However, in a particular family, if the precise mutation is identified, a genetic diagnosis is possible. This may help in finding symptom-free relatives so that they may be treated before they become ill or show signs of the disease.

Diagnosis

The earlier the diagnose of WD, the better the chance of definitive treatment. Without diagnosis and consequent proper treatments, severe liver damage occurs before there are signs of the disease. Those with WD may appear to be in excellent health while copper is accumulating. This is why it is such a problem for the small number of those inflicted throughout the developing world which lack access to correct diagnosis and treatment.

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