Diagnosis of Wilson's Disease
The common diagnostic test for Wilson's disease is the transport protein called ceruloplasmin. This is usually less than 20 mg/dl. It may be falsely low in patients who have acute infection or a malignancy.
Further measurements can support this diagnosis in the form of measurement of copper content of the liver. When a liver biopsy is performed and dried, copper can then be weighed. When it is greater than 250 micrograms of copper per gram of liver tissues, patients are likely to have Wilson's disease.
A 24-hour urine collection can be used for testing the amount of copper that is excreted in the urine. This is also an extremely sensitive test for Wilson's disease. In some cases it may supplant the liver biopsy.
Family
Patients who have Wilson's disease should inform their family members of this diagnosis. First degree relatives can be screened for Wilson's disease after the age of 3 years. These patients should be followed closely.
Management of Wilson's Disease
Patients who are not treated usually have a fatal outcome.
Therapy is directed at chelation therapy. Treatment for Wilson's disease includes D-Penicillamine for the duration of the patient's life. Side effects do occur to D-Penicillamine therapy. These may limit the therapy in which case alternative treatments may be utilized.
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Wilson's Disease
Related Links
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Liver Function Tests
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