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.
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.
At the time of diagnosis, imaging studies of the aorta are recommended and
should be repeated after 6 months to determine if aortic enlargement is
occurring. If the diameter of the aorta is not enlarging, yearly magnetic
resonance imaging (MRI) scans from the of the circulation from the barin to the
pelvis are recommended, since affected persons commonly develop aneurysms that
are treatable surgically.
Loeys-Dietz Syndrome At A Glance
Loeys-Dietz syndrome is a recently-described connective tissue disorder
that predisposes to the development of aortic aneurysms and other connective
tissue defects.
Loeys-Dietz syndrome is known to be a result of mutations in the
TGF-beta-receptor I (TGFBR1) or II (TGFBR2) genes and is inherited in an
autosomal dominant manner.
Genetic testing is performed to identify the mutation and establish the
diagnosis, while imaging studies are required for evaluation of potential
aneurysms.
Surgery to repair aortic aneurysms is essential for treatment because the
aneurysms of Loeys-Dietz syndrome tend to rupture early.
References:
Hiratzka, LF, Bakris, GL, Beckman, JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease: A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 2010; 121:e266.
Loeys BL et al. New England Journal of
Medicine, 2006 Aug 24;355(8):788-98.; National Genetics, 2005
Mar;37(3):275-81.
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Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
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