Vascular Ehlers-Danlos Syndrome

Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders. The 2017 international classification recognizes 13 types, and the vascular type is one of the rare ones, estimated to affect 1 in 50,000 to 200,000 people. Unlike other types, which mainly cause very flexible joints, the vascular type mainly affects the blood vessels and hollow organs. It is caused by a change in the COL3A1 gene, which makes type III collagen, a protein that strengthens the walls of the arteries, intestines, and uterus.

Why the Blood Vessels Are Fragile

Type III collagen that is lacking or abnormal makes the artery walls thin and easy to tear. A tear can happen without any prior widening, especially in medium-sized arteries in the abdomen, neck, arms, and legs. The aorta can also widen or tear. Widening of the aorta is covered on the Aortic Aneurysm page, while a tear in the aortic wall is covered on the Aortic Dissection page. Besides the blood vessels, the colon can tear, the uterus can tear during pregnancy, and a lung can suddenly collapse.

Features That Can Be Recognized

The skin is thin and translucent, so the veins on the chest and abdomen are clearly visible. People with the condition bruise easily, and some have characteristic facial features: a thin nose and lips, hollow cheeks, and eyes that appear prominent. The skin of the hands and feet may look older than the person's age. The small finger joints are often flexible, but the large joints usually are not. These features can be subtle, so many people are diagnosed only after a first complication or after a family member is diagnosed.

Living with Vascular EDS

There is no cure yet, but preventive steps can reduce the risk. The 2024 European Society of Cardiology (ESC) guidelines and the 2022 American College of Cardiology/American Heart Association (ACC/AHA) guidelines recommend blood pressure control, monitoring of the blood vessels with tests that need no incision, and a specific type of beta blocker that reduced artery tears in research. Unnecessary invasive procedures are avoided because the tissue tears easily. People with the condition are advised to carry a medical alert card and to make an emergency plan with their doctor, so the emergency room team can quickly recognize the situation if sudden severe pain appears.

Doctors suspect vascular EDS when there is an artery tear, a tear of the colon, or a tear of the uterus during pregnancy at a young age with no clear cause, especially if it comes with thin skin, easy bruising, or a similar family history. The 2017 international classification criteria use these clues, but the diagnosis is confirmed by a genetic test that finds a change in the COL3A1 gene.

After diagnosis, the blood vessels are mapped with tests that need no incision, such as Doppler ultrasound, CT angiography, or MR angiography, to look for widening or tears that do not yet cause symptoms. Catheter angiography is avoided except for treatment procedures, because puncturing an artery carries a risk of tearing or bleeding. Echocardiography assesses the aortic root and the valves. Close family members are advised to have counseling and the same genetic test.

See a doctor if you or a family member has the following features. If you have already been diagnosed and sudden severe pain appears in your abdomen, chest, back, or head, go to the emergency room right away and show your medical alert card.

• Thin skin with clearly visible veins and easy bruising
• An artery tear, intestinal tear, or collapsed lung at a young age with no clear cause
• A family history of artery tears or sudden death at a young age
• A parent or sibling diagnosed with vascular EDS
• Plans for pregnancy in a woman with the condition