Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
Jay W. Marks, MD, is a board-certified internist and gastroenterologist. He graduated from Yale University School of Medicine and trained in internal medicine and gastroenterology at UCLA/Cedars-Sinai Medical Center in Los Angeles.
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.
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.
Ehlers-Danlos syndromes are a group of disorders which share common features including
easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity),"...