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Wilson Disease
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Diagnosis of Wilson Disease
Wilson disease is diagnosed through a physical examination and laboratory tests.
During the physical examination, a doctor will look for visible signs of Wilson disease.
A special light called a slit lamp is used to look for Kayser-Fleischer rings in the eyes. Kayser-Fleischer rings are present in almost all people with Wilson disease who show signs of neurologic damage but are present in only 50 percent of those with signs of liver damage alone.
Laboratory tests measure the amount of copper in the blood, urine, and liver tissue.
Most people with Wilson disease will have a lower than normal level of copper in the blood and a lower level of corresponding ceruloplasmin, a protein that carries copper in the bloodstream.
In cases of acute liver failure caused by Wilson disease, the level of blood copper is often higher than normal. A 24 hour urine collection will show increased copper in the urine in most patients who display symptoms.
A liver biopsy - a procedure that removes a small piece of liver tissue - can show if the liver is retaining too much copper. The analysis of biopsied liver tissue with a microscope detects liver damage, which often shows a pattern unique to Wilson disease.
Genetic testing may help diagnose Wilson disease in some people, particularly those with a family history of the disease.
Wilson disease can be misdiagnosed because it is rare and its symptoms are similar to those of other conditions.
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References:
National Digestive Diseases Information Clearinghouse (NDDIC)
July 2008
digestive.niddk.nih.gov
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