Diagnosis of Wilson's disease begins with a medical history and physical exam. Usually there are high levels of copper in the urine. Often the level of a special protein in the blood is lower than normal. A liver biopsy involves taking a small piece of liver with a special needle put through the skin. The piece can then be examined under a microscope for excess copper. Other tests are also useful, for example measuring the quantity of copper passed into the urine daily (high in Wilson's disease). Another lab test measures the ability of a sample of a patient's ceruloplasmin to bind with a form of copper (decreased in Wilson's disease).
More information on Wilson's disease
What is Wilson's disease? - Wilson's disease is an inherited disorder where there is excessive amounts of copper in the body leading to dementia and muscle control loss. What causes Wilson's disease? - Wilson's disease causes the body to absorb and retain excessive amounts of copper. The deposits of copper cause tissue damage, death of the tissues, and scarring. What're the symptoms of Wilson's disease? - Symptoms of Wilson's disease are dementia, drooling, slurred speech, temper outbursts and violent tremors. How is Wilson's disease diagnosed? - Diagnosis of Wilson's disease begins with a medical history and physical exam. Other tests are also useful. What's the treatment for Wilson's disease? - The goals of treatment of Wilson's disease are to reduce the amount of copper in the tissues and to manage the symptoms of the disorder.
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