Connective Issues Spring 2019

VIRTUAL MEDICAL SYMPOSIUM FEATURES VASCULAR EHLERS- DANLOS SYNDROME

As advances in genetic science provide a better understanding of the underlying causes of connective tissue conditions, what was previously one syndrome (traditional Marfan), we now understand to be a family of related conditions like vascular Ehlers-Danlos syndrome and Loeys Dietz syndrome. Our focus is on the people affected by these conditions and we want to continue to serve this community through support, research, and awareness. – Cory A. Eaves, Chair of the Foundation’s Board of Directors

Our commitment to the family of related conditions continued this Spring with a focus on vascular Ehlers-Danlos syndrome (vEDS) in our Prepare for Victory: Virtual Medical Symposium webinar series. The presentation was given by Dr. Shaine Morris, Texas Children’s Hospital, and Dr. Sherene Shalhub, University of Washington. They provided an overview of the condi- tion. Here are some of the basic facts.

• Vascular Ehlers-Danlos syndrome (vEDS) is a condition that has a wide range of features that range from spontaneous and easy bruising to bowel and/or arterial ruptures. 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, thin skin, and tissue fragility that could indicate the condition is present before there is a major complication. • Vascular Ehlers-Danlos syndrome is caused by a mutation in the COL3A1 gene, which encodes part of type III collagen and rarely on COL1A1. The best estimates, which combine counts of people who have been identified by genetic testing with calculations of how well that number represents all people, suggest that there are probably between 6,000 and 8,000 affected people in the U.S., or about 1/40—50,000 people. For comparison, this is about a quarter of the number who have Marfan syndrome. • The condition is diagnosed using five major criteria and several minor criteria. The major diagnostic criteria include a family history of vEDS, an arterial rupture at a young age, spontaneous colon perforation, uterine rupture during third trimester of pregnancy, and carotid-cavernous sinus fistula (an abnormal connection between an artery in your neck and the network of veins at the back of your eye). The diagnosis is then confirmed with genetic testing. • vEDS can look similar to other syndromes, which makes an accurate diagnosis difficult. However, getting the diagnosis is critical because those affected need to be aware of the potentially dangerous medical complications. • Research is currently focused on acquiring accurate and detailed phenotype descriptions (explanation of the characteristics) and knowledge of the individual’s genotype. For more information, please check out the recording of the vEDS webinar and our new fact sheet on the condition. Both are accessible at Marfan.org. In addition, the Foundation is offering a complete workshop track on vEDS at its upcoming annual conference, July 11-14, 2019. Register today!

I really appreciated this webinar. I knew a lot of the information that was presented from research I had done after my husband’s diagnosis, but to hear real, live people speaking about it was a relief! Our local doctors (who have all been wonderful) just don't have enough expertise to discuss the specifics of vEDS with us. This made me feel less alone. Please keep the webinars coming! – Monica Kile, St. Petersburg, FL

Check out the recording of the vEDS webinar and our new fact sheet on vEDS at Marfan.org .

10 Marfan.org