Wilson disease and excess copper are focus of new NIDDK publication

Jun 1 2009

Wilson disease, a rare but potentially serious condition that causes the buildup of too much copper in the body, is explained in a new fact sheet from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) at the National Institutes of Health (NIH).

While the human body needs a small amount of copper from food to stay healthy, too much of it is poisonous. Wilson disease is a genetic disorder that prevents the body from getting rid of extra copper. Instead, copper builds up in the liver, brain, eyes, and other organs. Over time, high copper levels can cause life-threatening organ damage.

People with Wilson disease inherited two altered copies of the ATP7B gene, one from each parent. Wilson disease carriers, who have only one copy of the altered gene, do not have symptoms. Most people with Wilson disease have no known family history of it. A person's chances of having Wilson disease increase if one or both parents have it.

About one in 40,000 people get Wilson disease, which affects men and women equally. Symptoms usually appear between ages 5 to 35, but new cases have been reported in people between ages 2 to 72.

NIDDK's "Wilson Disease" fact sheet outlines symptoms, diagnosis and treatment. A link to the publication is available in the A to Z list of topics and titles at http://digestive.niddk.nih.gov.

"Wilson Disease" and other publications also can be ordered by calling NIDDK's National Digestive Diseases Information Clearinghouse (NDDIC) at 1-800-891-5389 or writing to NDDIC, 2 Information Way, Bethesda, MD 20892-3570. Single copies of publications are free.

The NDDIC was created in 1980 to increase knowledge and understanding about digestive diseases among people with these conditions and their families, health care professionals and the general public. The clearinghouse produces fact sheets and booklets about a multitude of digestive topics.

http://www.niddk.nih.gov