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Contact: Rebecca Harmon |
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Monday, July 29, 1996 World's First Hemochromatosis Clinic Opened At The University Of Pennsylvania Medical Center 21st-Century Genetics Works With 17th-Century Treatment Genetic specialists at the University of Pennsylvania Medical Center have established the world's first clinic dedicated to diagnosing and treating hemochromatosis -- a genetic disorder causing excessive iron build-up in the body. Although the majority of these cases are highly curable, early detection is critical in preventing long-term disease complications from excessive iron that may accumulate in organs of the body, including the heart, pancreas, pituitary gland, liver, muscular joints and under the skin. These complications may include congestive heart failure, diabetes, impotence and early menopause, liver cirrhosis or liver cancer, arthritis, or bronzed skin. According to the national Iron Overload Disease Association, hemochromatosis is the most common of all genetic diseases -- affecting over one million American adults and children. "Once detected, simple and preventive treatment is available for patients," says Christopher Friedrich, MD, PhD, assistant professor of medicine in the Division of Medical Genetics of the Department of Medicine. "Patients may lead normal, active lives once properly treated," he adds. At Penn's Hemochromatosis Clinic, preliminary screening for the disorder can be done by a blood test that measures "transferon saturation" -- an indicator of excessive iron in the blood. If tests show a toxic build-up, the "cure" -- remarkably -- is periodic phlebotomy, or blood-letting -- the removal of blood from the body. "If you've ever given blood, then you understand the treatment process," explains Dr. Friedrich. "We simply run an IV into your arm and withdraw a pint of blood." The blood that is removed is discarded. "The most amazing thing about hemochromatosis is that if treated early enough, we can prevent organ damage and, in some cases, actually reverse damage," he adds. The Hemochromatosis Center, under the auspices of the Division of Clinical Genetics in the Department of Medicine, is directed and staffed by a multidisciplinary team of genetic experts and offers services that include screening, education, treatment and counseling for patients diagnosed with the disease. According to Penn's James M. Wilson, MD, PhD, Chief of the Division of Clinical Genetics, and Edward Holmes, MD, Chairman of the Department of Medicine, the new Hemochromatosis Clinic will serve not only as a treatment center, but also as a resource to provide patients and physicians with information about hemochromatosis management. The Division of Clinical Genetics will also provide services for adults diagnosed with, or suspected of having, other inherited disorders such as Marfan Syndrome and Gaucher disease. |
