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(Ivanhoe Newswire) -- You may not have ever heard of Marfan syndrome, Ehlers-Danlos or Loeys-Dietz syndrome. Not many physicians have the chance to regularly work with these extremely rare genetic conditions. Now, researchers have developed a new set of guidelines that could offer hope for better care.
The three syndromes can be severe and potentially fatal. Each syndrome has a negative affect on aortas, the major blood vessel running from the heart through the bottom of the trunk area. The vessel often becomes so flimsy that it can rupture easily and without warning. Lifestyle changes can help some, but depending on the condition, the usefulness can vary.
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Loeys-Dietz is characterized by wide eyes, cleft palate or split uvula and convoluted arrangement of blood vessels. Marfan and Ehlers-Danlos both involve connective tissue. They generally affect the skin and other vascular areas.
Researcher Harry Dietz, M.D., of Johns Hopkins University School of Medicine in Baltimore, led a multi-institutional study involving 50 families. They compared patients with either Loeys-Dietz or Ehlers-Danlos with the slightly more understood condition Marfan syndrome.
Dr. Dietz discovered that clinical and molecular analysis can help distinguish which patients have Loeys-Dietz and which patients have the other two syndromes. This is important because while all patients are at risk of rupture of the aorta, Loeys-Dietz patients are most likely to have their aorta and blood vessels rupture at smaller dimensions, at a younger age, and throughout more areas of the body. This group is also at increased risk of rupturing the uterus during pregnancy.
Researchers report that patients with Loeys-Dietz are more likely to benefit from surgery than patients with the other two syndromes. Therefore, Dr. Dietz says aggressive surgical intervention is important.
Currently, the diagnostic test is available at the Johns Hopkins DNA Diagnostic Laboratory.
This article was reported by Ivanhoe.com, who offers Medical Alerts by e-mail every day of the week. To subscribe, go to: http://www.ivanhoe.com/newsalert/.
SOURCE: The New England Journal of Medicine, 2006;355:788-798
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