What is Wilson's disease?
Wilson's disease is an inherited disorder in which excessive amounts of copper accumulate in the body. Although the accumulation of copper begins at birth, symptoms of the disorder appear later in life, between the ages of 6 and 40. The primary consequence for approximately 40 percent of patients with Wilson's is liver disease. In other patients the first
symptoms are either neurological or psychiatric or both, and include tremor, rigidity, drooling, difficulty with speech, abrupt personality change, grossly inappropriate behavior and inexplicable deterioration of schoolwork, neurosis or psychosis.
Metabolism refers to the countless and ongoing chemical processes inside the body that allow life and normal functioning. Wilson's disease is a relatively rare genetic disorder, called an 'inborn error of metabolism', that prevents the body from eliminating copper. The build-up of copper damages certain organs including the liver, nervous system, brain, kidneys and eyes. In around half of cases, only the liver is affected. The copper begins to accumulate at birth, but symptoms usually appear during the teenage years. Without treatment, the copper poisoning is fatal. There is no cure, but the condition can be managed. Under normal conditions, copper that finds its way into the body through the diet is processed within the liver. This processed form of copper is then passed into the gallbladder, along with the other components of bile (a fluid produced by the liver, which enters the small intestine in order to help in digestive processes). When the gallbladder empties its contents into the the first part of the small intestine (duodenum), the copper in the bile enters and passes through the intestine with the waste products of digestion. Copper is then passed out of the body in stool.
In Wilson's disease, copper does not pass from the liver into the bile, but rather begins to accumulate within the liver. As copper levels rise in the liver, the damaged organ begins to allow copper to flow into the bloodstream, where it circulates. Copper is then deposited throughout the body, building up, in particular, in the kidneys, the brain and nervous system, and the eyes. Wilson's disease, then, is a disorder of copper toxicity. |
