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Wilson's Disease
Wilson's disease causes the body to retain copper. The liver of a person who has Wilson's disease does not release copper into bile as it should. Bile is a liquid produced by the liver that helps with digestion. As the intestines absorb copper from food, the copper builds up in the liver and injures liver tissue. Eventually, the damage causes the liver to release the copper directly into the bloodstream, which carries the copper throughout the body. The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, Wilson's disease can cause severe brain damage, liver failure, and death.

Wilson's disease is hereditary. Symptoms usually appear between the ages of 6 and 20 years, but can begin as late as age 40. The most characteristic sign is the Kayser-Fleischer ring--a rusty brown ring around the cornea of the eye that can be seen only through an eye exam. Other signs depend on whether the damage occurs in the liver, blood, central nervous system, urinary system, or musculoskeletal system. Many signs can be detected only by a doctor, like swelling of the liver and spleen; fluid buildup in the lining of the abdomen; anemia; low platelet and white blood cell count in the blood; high levels of amino acids, protein, uric acid, and carbohydrates in urine; and softening of the bones. Some symptoms are more obvious, like jaundice, which appears as yellowing of the eyes and skin; vomiting blood; speech and language problems; tremors in the arms and hands; and rigid muscles.

Wilson's disease is diagnosed through tests that measure the amount of copper in the blood, urine, and liver. An eye exam would detect the Kayser-Fleischer ring.

The disease is treated with lifelong use of D-penicillamine or trientine hydrochloride, drugs that help remove copper from tissue, or zinc acetate, which stops the intestines from absorbing copper and promotes copper excretion. Patients will also need to take vitamin B6 and follow a low-copper diet, which means avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish.

Wilson's disease requires lifelong treatment. If the disorder is detected early and treated correctly, a person with Wilson's disease can enjoy completely normal health.

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For More Information

Wilson's Disease Association
4 Navaho Drive
Brookfield, CT 06804
Phone: 1-800-399-0266 or (203) 775-9666
Email: hasellner@worldnet.att.net
Internet: www.wilsonsdisease.org

American Liver Foundation
75 Maiden Lane, Suite 603
New York, NY 10038-4810
Helpline (24 hours, 7 days a week): 1-800-465-4837 or 1-888-443-7222
Phone: 1-800-676-9340 or (212) 668-1000
Fax: (212) 483-8179
Email: info@liverfoundation.org
Internet: www.liverfoundation.org

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Additional Information on Wilson's Disease

The National Digestive Diseases Information Clearinghouse collects resource information on digestive diseases for the Combined Health Information Database (CHID). CHID is a database produced by health-related agencies of the Federal Government. This database provides titles, abstracts, and availability information for health information and health education resources.

To provide you with the most up-to-date resources, information specialists at the clearinghouse created an automatic search of CHID. To obtain this information, you may view the results of the automatic search on Wilson's Disease.

If you wish to perform your own search of the database, you may access the CHID Online website and search CHID yourself.



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National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Email: nddic@info.niddk.nih.gov

The National Digestive Diseases Information Clearinghouse (NDDIC) is a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). The NIDDK is part of the National Institutes of Health under the U.S. Department of Health and Human Services. Established in 1980, the clearinghouse provides information about digestive diseases to people with digestive disorders and to their families, health care professionals, and the public. NDDIC answers inquiries, develops and distributes publications, and works closely with professional and patient organizations and Government agencies to coordinate resources about digestive diseases.

Publications produced by the clearinghouse are carefully reviewed by both NIDDK scientists and outside experts.

This e-text is not copyrighted. The clearinghouse encourages users of this e-pub to duplicate and distribute as many copies as desired.


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NIH Publication No. 03-4684
March 2003

 
http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/index.htm

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