Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles and blood vessels. There are four types of the syndrome, labelled types I through IV, which are distinguished by their genetic cause. Type 1, Type 2, Type3 and Type4 are caused by mutations in the genes. The characteristics of this syndrome include early fusion of the skull bones, widely spaced eyes and cleft palate or split uvula. In some individuals with this syndrome, other physical abnormalities have been noted, including defects at birth in the heart and brain, osteoporosis, skin changes (such as translucent skin and/or easy bruising) and defects of the spine or chest.
HOW IS LOEYS-DIETZ SYNDROME DIAGNOSED?
A General Physician/Pediatrics often diagnoses Loeys-Dietz Syndrome by conducting a blood test CT scans or colonoscopy.
HOW IS LOEYS-DIETZ SYNDROME TREATED?
There is no known cure, Loeys–Dietz syndrome is a lifelong condition. Due to the high risk of death from aortic aneurysm rupture, patients should be followed closely to monitor aneurysm formation, which can then be corrected with interventional radiology or vascular surgery. If an increased heart rate is present, atenolol is sometimes prescribed to reduce the heart rate to prevent any extra pressure on the tissue of the aorta. Likewise, strenuous physical activity is discouraged in patients, especially weight lifting and contact sports.
DID YOU KNOW?
Those affected with Loeys-Dietz Syndrome tend to bruise easily and may develop an abnormal scar after the wound heals.