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Loeys-Dietz Syndrome

👤by MedicineNet.com 0 comments 🕔Wednesday, September 14th, 2016

The only treatment for Loeys-Dietz syndrome to prolong life expectancy is surgical repair of the aortic aneurysm. Surgical repair of the aneurysms is generally successful. Since the aneurysms tend to rupture early, early and accurate diagnosis is critical to ensure that affected individuals receive prompt surgical treatment. The genetic test can be of value in identifying which individuals with aortic aneurysms have Loeys-Dietz syndrome, and therefore, should have immediate surgery. In contrast to Loeys-Dietz syndrome, in other inherited syndromes associated with aortic aneurysms, surgery carries a poorer prognosis, and the aneurysms can be managed with medications for a longer period of time before surgery becomes necessary. Studies are ongoing to determine whether drug treatment of the Loeys-Dietz syndrome also may be of value.

Loeys-Dietz syndrome is a recently-described connective tissue disorder with features similar to those of Marfan syndrome, and the vascular type of Ehlers-Danlos syndrome. Loeys-Dietz syndrome is primarily characterized by aortic aneurysms (weakened outpouchings of the aorta, the main artery in the body) in children. In Loeys-Dietz syndrome, the aortic aneurysms are prone to rupture at a smaller size than other aneurysms, putting children with Loeys-Dietz at great risk for dying if the aneurysm is not identified and treated early.

The syndrome is named for pediatric geneticist Harry Dietz, director of the William S. Smilow Center for Marfan Syndrome Research at Johns Hopkins University and his colleague, Bart Loeys, who characterized the genetic and physical markers of the syndrome together with Dr. Dietz.

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