Wilson's Disease


Wilson's disease is an inherited disease in which excessive amounts of copper accumulate in the body. Copper, unlike other toxic metals such as lead and mercury, is as essential to health as vitamins, but the inability of the body and especially the liver to excrete excessive amounts of copper results in the fatal accumulation of the metal in several organs. The liver is the first organ to store copper, however, when its storage capacity is exhausted, the overflow passes from the liver into the bloodstream and is carried to other organs, primarily the brain and the cornea of the eye.

The retention of copper begins at birth, but due to the protective role of the liver in detoxifying chemicals, it may take ten to thirty years before the liver is overwhelmed and symptoms including those resembling hepatitis, manifest themselves. Copper accumulation in the brain can present itself in two ways; as psychiatric disorders such as depression, maniacal tendencies or suicidal impulses; or physical symptoms including slurred speech, failing voice, drooling, tremors, or difficulty in swallowing. Muscular control can deteriorate until the patient is bedridden and helpless.

During adolescence, anxiety or depression can be misinterpreted as normal adjustment difficulties, rather than indications of a potentially fatal illness. The presence of both psychiatric and physical symptoms makes Wilson's disease difficult to diagnose and especially prone to misdiagnosis individuals between 6 and 32 who show signs of any of the above mental or physical symptoms should be screened for Wilson's disease with a simple blood test measuring serum copper and ceruloplasmin. A definitive test for Wilson's disease is the presence of Kayser-Fleischer rings which show an accumulation of copper around the cornea that is sometimes visible to the naked eye.

Although Wilson's disease is fatal if undetected, effective treatment is available even in advanced cases. The toxic concentration of copper in the body must be removed and its re-accumulation prevented. The use of a decoppering agent (Penicillamine is the most common) can remove excess copper from the body and prevent future accumulations. This treatment must be continued for the lifetime of the patient; all siblings of patients with Wilson's disease should be screened for the disease. Because of its rarity, Wilson's disease is often not apparent to doctors. More research is needed to discover the role that genes play in its transmittal and on the activity of metals in our bodies.

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