Wilson's Disease
How is Wilson's Disease Diagnosed?
Aside from physical symptoms which may indicate the presence of Wilson’s Disease, medical tests will reveal other symptoms such as swelling of the liver and spleen; fluid buildup in the lining of the abdomen; anemia and low platelet and white blood cell count in the blood.
It is suggested that Wilson’s Disease should be suspected in all young individuals who present with liver disease - especially if there is a family history of liver disease. Because Wilson’s Disease also causes neurological and psychiatric disorders, any family history of those conditions should raise suspicion of Wilson’s Disease as well. A physical examination and laboratory tests are performed to establish the diagnosis.
- Eye examination. Using a special light called a slit lamp, the physician will look for Kayser-Fleischer rings in the eyes which are almost always present in all patients with Wilson’s Disease and neurological symptoms but may not be present in patients suffering from liver disease only.
- Laboratory tests. Blood, urine and liver tissue specimens will be collected. Blood tests will be performed to look for copper in the blood and to monitor liver function and a 24-hour urine collection will be tested to measure the amount of copper being excreted in the urine. A liver biopsy (small sample of liver tissue removed from the liver using a long thin needle) may be performed to test for excess copper.
- Genetic testing. For those individuals with a family history of Wilson’s Disease, genetic testing may be helpful in making a diagnosis. A DNA mutation analysis blood test can identify the genetic mutations that cause Wilson’s Disease thereby allowing asymptomatic family members to be tested and treated early before disabling symptoms begin.
Because Wilson’s Disease causes a wide variety of symptoms which could be mistaken for other diseases and conditions, it is advisable to see a doctor immediately if any of the listed symptoms are present and it is especially important to inform the doctor if any family member has Wilson’s Disease.
References
American Liver Foundation “Wilson Disease” http://www.liverfoundation.org/abouttheliver/info/wilson/. Retrieved March 10, 2011
Mayo Clinic “Wilson’s Disease” http://www.mayoclinic.com/health/wilsons-disease/DS00411. Retrieved March 10, 2011
Medline Plus “Wilson Disease” http://www.nlm.nih.gov/medlineplus/wilsondisease.html. Retrieved March 10, 2011
Medscape Today “Wilson’s Disease: Treatment and Management” http://www.medscape.com/viewarticle/543866_6. Retrieved March 10, 2011
Natural Institute for Neurological Disorders and Stroke “Wilson’s Disease” http://www.ninds.nih.gov/disorders/wilsons/wilsons.htm. Retrieved March 10, 2011
Palmer, M.D., Melissa. Dr. Melissa Palmer’s Guide to Hepatitis & Liver Disease. New York: Avery Trade, 2004
Worman, M.D. Howard J. The Liver Disorders and Hepatitis Sourcebook. McGraw-Hill, 2006