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Scientists Review Loeys-Dietz Syndrome in the Largest Ever Study to date

There are about three severe, potentially fatal genetic diseases which damage aortas leaving them so flimsy that they can rupture in pregnancy and labor or even lesser //activities, often without warning. Beta blockers, curbing exercise, proactive blood vessel surgery and other approaches can be helpful, but their usefulness varies according to which disease and when they're offered.

Now a large follow-up study of more than 50 families by a multi-institutional team led by Johns Hopkins scientists should bring better guidelines for treating the disorders. The work, published August 24 in The New England Journal of Medicine, closely compares patients having one of two types of the lesser known Loeys-Dietz syndrome or Ehlers-Danlos syndrome with better-understood Marfan syndrome. It stresses the importance of comprehensive clinical evaluations when diagnosing the diseases.

People with Loeys-Dietz syndrome have wideset eyes, a cleft palate or split uvula (the tissue that hangs down in the back of the throat), and a convoluted arrangement of the body's blood vessels, in addition to aggressive swelling of the aorta. In these patients, the aorta breaks at a much smaller size than it does in people with Marfan syndrome or most other causes of aortic aneurysm.

Marfan and Ehlers-Danlos syndromes both are similar heritable conditions with overlapping symptoms that affect the connective tissue, the tissue that holds the body together. Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin and lungs. The vascular variant of Ehlers-Danlos also affects skin, muscles and ligaments and causes hypermobility of joints and fragile blood vessels that tear easily.

"This study shows that both clinical and molecular analyses can distinguish patients with Loeys-Dietz syndrome from those with either Marfan syndrome or vascular Ehlers-Danlos syndrome," says Harry Dietz, M.D., director
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