vEDS is a genetic connective tissue disorder that causes the blood vessels and organs to be fragile and prone to tearing. The complications of vEDS can be life-threatening and include aneurysm, dissection, and rupture of the arteries and rupture of organs. vEDS may also cause a variety of other symptoms, including extensive bruising and spontaneous pneumothorax.
Vascular Ehlers-Danlos Syndrome (vEDS)
vEDS is a rare disorder that affects roughly 1 in 100,000 – 200,000 people.
vEDS is caused by differences in the genes called genetic variants. These genetic variants affect the connective tissue, which provides support, protection, and structure throughout the body.
vEDS is caused by genetic variants of these genes:
- COL3A1
- COL1A1
vEDS is inherited in an autosomal dominant pattern. This means if a person inherits the genetic variant from one of their parents, they will have vEDS. Each child of a parent with vEDS will have a 50% chance of having vEDS.
About half of people with vEDS are the first person in their family to have vEDS due to a random mutation. Once a genetic variant is introduced through a random mutation, it can be inherited in an autosomal dominant pattern.
vEDS may be suspected if a person has:
- Arterial rupture, dissection, or aneurysm
- Organ rupture
- Unusual and unexplained bruising
- Family history of vEDS
People with vEDS may also have:
- Thin, translucent skin with visible veins
- Small joint hypermobility
- Pregnancy complications
- Spontaneous pneumothorax
- Clubfoot
- Carotid cavernous fistula
- Characteristic facial features, such as:
- Thin lips and philtrum
- Micrognathia
- Narrow nose
- Prominent eyes
- Attached earlobes
Genetic testing is used to see if a person has the genetic variants that cause vEDS. Genetic testing should be considered if a person has any of the major criteria or several minor criteria, particularly in people under the age of 40.
Major Criteria
- Family history of vEDS with documented causative variant in COL3A1
- Arterial rupture at a young age
- Spontaneous sigmoid colon perforation in the absence of known diverticular disease or other bowel pathology
- Uterine rupture during the third trimester in the absence of previous C-section and/or severe peripartum perineum tears
- Carotid-cavernous sinus fistula (CCSF) formation in the absence of trauma
Minor Criteria
- Bruising unrelated to identified trauma and/or in unusual sites such as the cheeks and back
- Thin, translucent skin with increased venous visibility
- Characteristic facial appearance
- Spontaneous pneumothorax
- Acrogeria
- Talipes equinovarus
- Congenital hip dislocation
- Hypermobility of small joints
- Tendon and muscle rupture
- Keratoconus
- Gingival recession and gingival fragility
- Early-onset varicose veins (under age 30 and nulliparous if female)
vEDS can cause a variety of symptoms in many different areas of the body, so people with vEDS may require multiple providers in different specialties to manage their care.
Key aspects of care focus on monitoring and managing arterial and organ fragility. It is recommended that people with vEDS have an emergency plan in place and make lifestyle modifications to minimize the risk of injury. Each person should work with their care team to develop a care plan that meets their individual needs.
Resources
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome
Vascular Ehlers-Danlos Syndrome
Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis
The 2017 International Classification of the Ehlers-Danlos Syndromes
Video Resources
EDS ECHO Summit Series: Vascular Ehlers-Danlos Syndrome Event
Vascular Ehlers-Danlos Syndrome Community Voices and Event Presentations
