Vascular Ehlers-Danlos syndrome (VEDS) is a genetic condition that is caused by a change (mutation) in the gene for collagen type 3 (the COL3A1 gene). This mutation may come from a parent with the syndrome or be due to a new change in the gene. VEDS is autosomal dominant, which means that if a parent has the condition, there is a 50% chance each child will have the condition. Collagens are part of our body’s connective tissue. Collagens play an important role in the structure and function of bones, muscles, skin, tendons, organs, and blood vessels. People with VEDS have abnormal function of type 3 collagen and may have a wide range of features that range from spontaneous and easy bruising with little or no change in lifespan to bowel and/or arterial and aortic rupture or dissection at a young age and a reduced lifespan. Women with VEDS have the potential of a rupture of the uterus during pregnancy that may substantially shorten lifespan. Some people with VEDS have a characteristic facial appearance (Figure 1), thin skin, and tissue fragility that could indicate the condition is present and assist in recognition of the condition before there is a major complication.
Figure 1 - Facial Characteristics of VEDS
To diagnose you with VEDS, your doctor will review your medical and family history. They will also look to see if you have any physical features of VEDS. If the evaluation raises the concern that you may have VEDS, a DNA test can confirm that you have the COL3A1 mutation that causes this condition.
People with VEDS should avoid circumstances that can cause medical problems, such as contact sports, heavy lifting, intense weight training, and activities that may include sudden impact or jarring of the body.
Exercise should be modified according to your doctor’s recommendations. Children with VEDS may need a modified exercise plan at school. It is essential to discuss physical activities and specific activity levels with a knowledgeable physician so that exercise can be incorporated safely into the regular healthcare routine. This should be an ongoing conversation because, as children age, their medical status and desires can change. Anyone with VEDS should favor a non-competitive activity performed at a pace that permits conversation, such as brisk walking, leisurely bicycling, slow jogging, shooting baskets, leisurely tennis or swimming, and use of light weights without straining.
Some children with mild forms of VEDS have been successful in competitive environments in non-collision sports.
Pregnancy carries an increased risk of complications in women with VEDS. It is very important to have an informed discussion with your VEDS medical team before contemplating pregnancy. Pregnancy risk includes life-threatening complications such as arterial dissection and rupture, uterine rupture and surgical complications as well as preterm delivery, lacerations, and poor wound healing. Pregnant women with VEDS should be followed by a high-risk maternal-fetal specialist. The type of COL3A1 mutation present may provide prognostic information about the natural history of the condition and may impact maternal risks of pregnancy. A recent study from the University of Washington reported a pregnancy-related death rate of about 5% per delivery, with all fatalities occurring in women with protein-altering mutations. However, there were no deaths reported among the subgroup of women with null mutations in COL3A1.
Prenatal testing is available for pregnancies because of a known disease-causing mutation in one of the parents. Genetic counseling is an important aspect of care and generally includes discussions prior to becoming pregnant. Pre-implantation genetic diagnosis, in which unaffected embryos are selected for implantation, can eliminate the risk of transmission from an affected parent.
In addition to careful assessment of the risk for women contemplating pregnancies, couples in whom the underlying genetic defect is known may consider prenatal or pre-implantation diagnostics.
In both cases, knowledge of the pathogenic variant gene change is an absolute requirement. Couples must also have dedicated pre-conceptual counseling. Experience with use of assisted reproductive technologies for women with VEDS is limited.
The method of delivery for women with VEDS may include assisted vaginal delivery with epidural anesthesia, methods to avoid pushing and straining, or cesarean section. There are not adequate data to recommend one type of delivery method over the other. Shared decision making by a knowledgeable team (including cardiologist/vascular specialist/maternal fetal medicine/anesthesia) is recommended.
Prepare in advance for a potential emergency. VEDS is considered the most serious form of Ehlers-Danlos syndrome due to the possibility of arterial or organ rupture. If you experience sudden or severe headache, neck, chest, abdominal, or extremity pain or bleeding, go to a hospital emergency department immediately. Tests, such as MRA, MRI, and CT, can identify arterial or bowel complications, such as a rupture, that require surgery or problems like a collapsed lung (pneumothorax). Individuals should have emergency instructions from their personal physician to provide EMS workers in case of emergency. Families should also be proactive and alert local first responders to their diagnosis.
A medical alert bracelet can raise alert emergency personnel right away that you are at risk for a life-threatening dissection. It is also beneficial to have your medical records quickly available, such as through Backpack Health, an app for your smartphone. The link to your emergency information in your “backpack” can be added to your medical alert jewelry for easy access.