Conditions
Vascular Ehlers-Danlos syndrome (vEDS)
Fragile arteries, bowel and womb that can tear, often with easy bruising and thin skin where veins show clearly.
About Vascular EDS
Vascular Ehlers-Danlos syndrome (vEDS) is a rare condition that can be passed down in families. It affects type III collagen, a protein that helps keep the arteries, bowel and womb strong. When these tissues are weak, an artery or the bowel can tear without warning, and pregnancy can carry extra risk.
Many people also bruise easily or have thin skin where veins show clearly. About half of the people found to have vEDS have no known family history of it.
A clinical geneticist usually makes the diagnosis, often working with doctors who treat the heart and blood vessels. The main test is a genetic test of one gene, COL3A1. Scans of the arteries, such as an ultrasound or MRI, are often part of care.
Before a visit, it helps to record bruising and any torn artery, bowel tear or collapsed lung, and when it happened. Pregnancy problems, hospital and scan reports, and relatives with vEDS or artery problems at a young age are useful too.
Who usually evaluates it: Usually a clinical geneticist, often working with doctors who treat the heart and blood vessels.
What you can record in Selihc Health
- A torn, bulging or burst artery, a bowel tear or a collapsed lung, and when it happened
- Problems during pregnancy or birth, such as a tear in the womb
- Bruising, including bruises that show up without a bump or injury, with photos
- Clubfoot or a hip out of place at birth, tendon or muscle tears, varicose veins, and gums that bleed easily
- Your own check of thin skin where veins show, older-looking skin on the hands, receding gums and how far your joints bend, labeled as self-reported
- Hospital, scan, eye, dental and genetic test reports, with the findings and genes they name
- Relatives with vEDS or a torn or bulging artery
What only a clinician can do
- Reviewing scans and hospital reports of artery, bowel or womb tears
- Examining the skin, face, eyes, gums and joints
- Deciding on genetic testing of COL3A1 and explaining the result
- Planning care, including a letter or card to show in an emergency
In an emergency
Call 911 right away for sudden, severe pain in the belly, side, back or chest, or pain that keeps getting worse. Also call 911 for signs of a stroke, such as sudden weakness or numbness on one side, trouble speaking or seeing, or a sudden, very bad headache. Call 911 for a red, painful or bulging eye with a whooshing or pulsing sound in your head, for sudden trouble breathing, or for coughing up blood. If you are pregnant, call 911 for sudden belly pain or heavy bleeding. Do not drive yourself. If a clinician has told you about vEDS in you or your family, tell the 911 team and the hospital staff. Show your emergency card or letter if you carry one.
The published criteria
Your summary organizes your records against these sources, for your clinician to review. What clinicians see
Vascular Ehlers-Danlos syndrome: 2017 international classification
Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi:10.1002/ajmg.c.31552
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This page is general information written for patients, not medical advice. Content is a draft awaiting clinical review.
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