Several major complications have been noted in early patient studies.
The majority of individuals with Loeys-Dietz syndrome are diagnosed with aneurysms (commonly called enlargements or dilations) of the aortic root. Aneurysms can also be seen throughout the arterial tree (all of the arteries). Although monitoring of aneurysms, surgical intervention and medication use will hopefully help to decrease the amount of cardiovascular complications associated with LDS, there is a risk for death due to aortic dissection (aneurysm rupture or tear).
Individuals diagnosed with LDS should go to the emergency room if they have episodes of intense and/or prolonged pain in the body. As many emergency room professionals may not be familiar with the diagnosis of LDS, it is important that they know of the predisposition to arterial rupture and that prompt imaging should be performed. Rarely, hollow organ (uterus, spleen, intestine) rupture occurs. Individuals impacted by LDS should work with their physician to develop an emergency letter that should be placed in their medical records and shared with schools, workplaces, etc.
Another complication observed in individuals with LDS is cervical-spine instability (instability in the vertebrae directly below the skull). This can potentially cause serious risks and should be evaluated with x-rays in the flexion and extension positions.
An orthopedics physician may need to be consulted and may recommend further imaging such as MRI or CT of the neck. These images should be performed prior to any surgeries requiring intubation, as this will impact anesthesia management. A small proportion of individuals with LDS require surgical intervention to fuse the bones of the skull to prevent dangerous slippage of the bones around the spinal cord.
A complication specific to women is the high incidence of difficulties during pregnancy. There is a high risk of aortic dissection or uterine rupture during pregnancy or directly after childbirth. Many women with LDS have had numerous successful pregnancies. It is challenging that there are no predictors of which women may experience complications and which may not. If you have a diagnosis of LDS, you should consult your physicians prior to a pregnancy to discuss risks and to determine a plan for pregnancy management. As some individuals with LDS are on blood pressure medications in the angiotensin receptor blocker class, it is important to note that this medication is teratogenic (causing medical concerns, birth defects and/or death) to the fetus and a plan for titrating off this medication should be put in place prior to pursuing pregnancy.
Medical information provisioned by The Loeys-Dietz Syndrome Foundation. © 2015
Last Updated January 19, 2015