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Wilson Disease
 

Diagnosis

The diagnosis of Wilson disease may involve one or more of the following laboratory tests, findings, or procedures:

  1. Unusually low serum ceruloplasmin levels. (However, ceruloplasmin levels may be normal in up to 10 percent of individuals with Wilson disease.)
  2. 24-hour urinary copper excretion test with findings of greater than 100mg.
  3. Confirmation of the presence of Kayser-Fleischer rings. These are golden or greenish-brown rings around the corneas of the eyes. In individuals with brown eyes, a special examination of the eyes known as a slit lamp examination may be necessary to confirm the presence of these rings. They are present in most individuals with Wilson disease and are closely associated with neurologic and psychiatric symptoms and findings.
  4. Serum copper levels of less than 80µg/dl.
  5. Demonstration of increased levels of copper in the liver of greater than 250µg/g dry weight. Tissue samples for testing are obtained through a surgical biopsy of the liver.

Some patients who have Kayser-Fleischer rings may have normal levels of serum ceruloplasmin. A liver biopsy may be required to confirm the diagnosis of Wilson disease in these patients.

Early diagnosis is critical since liver damage may occur before the onset of symptoms. Family members of those with a confirmed diagnosis of Wilson disease also require testing and screening for the disease, even if they do not have symptoms. Screening tests should include the evaluation of serum ceruloplasmin levels and urinary copper output.