Overview
Vascular Ehlers-Danlos syndrome (vEDS), also known as Ehlers-Danlos syndrome type IV, is a rare and severe inherited connective tissue disorder caused by pathogenic variants in the COL3A1 gene, which encodes type III procollagen. Type III collagen is a major structural component of blood vessel walls, the gastrointestinal tract, and the uterus, making these organ systems particularly vulnerable. The condition is considered the most life-threatening subtype of Ehlers-Danlos syndrome due to the risk of spontaneous arterial dissection or rupture, bowel perforation (most commonly of the sigmoid colon), and uterine rupture during pregnancy. Characteristic physical features include thin, translucent skin through which underlying veins are easily visible, particularly over the chest and abdomen. Patients often have a distinctive facial appearance with thin lips, a narrow nose, small chin, and prominent eyes. Easy bruising is common, and wound healing may be delayed. Joint hypermobility, when present, tends to be limited to the small joints of the hands. Arterial, intestinal, and uterine complications typically present in adolescence or early adulthood, with a median life expectancy historically reported around 50 years, though this varies considerably. Diagnosis is confirmed through molecular genetic testing of the COL3A1 gene. Management focuses on surveillance, prevention of complications, and prompt treatment of vascular or gastrointestinal emergencies. Patients are advised to avoid contact sports, heavy lifting, and invasive vascular procedures when possible. The medication celiprolol, a beta-blocker with vasodilatory properties, has shown some evidence of reducing the risk of arterial events in clinical trials and is used in some centers as a preventive therapy. Surgical interventions carry significant risk due to tissue fragility and are generally reserved for life-threatening emergencies. Genetic counseling is strongly recommended for affected individuals and their families.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsBaylor College of Medicine — NA
Acer Therapeutics Inc. — PHASE3
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Vascular Ehlers-Danlos syndrome.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
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Rare Disease Specialist
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Vascular Ehlers-Danlos syndrome.
Community
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Start the conversation →Latest news about Vascular Ehlers-Danlos syndrome
Disease timeline:
New trial: Clinical Trial to Compare the Efficacy of Celiprolol to Placebo in Patients With Vascular Ehlers-Dan
Phase PHASE3 trial recruiting. ACER-002 (celiprolol) 200 mg BID
New trial: Heart Coherence Training on Vascular Ehlers-Danlos Syndrome Patients
Phase NA trial recruiting. Heartmath Intervention
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Vascular Ehlers-Danlos syndrome
What is Vascular Ehlers-Danlos syndrome?
Vascular Ehlers-Danlos syndrome (vEDS), also known as Ehlers-Danlos syndrome type IV, is a rare and severe inherited connective tissue disorder caused by pathogenic variants in the COL3A1 gene, which encodes type III procollagen. Type III collagen is a major structural component of blood vessel walls, the gastrointestinal tract, and the uterus, making these organ systems particularly vulnerable. The condition is considered the most life-threatening subtype of Ehlers-Danlos syndrome due to the risk of spontaneous arterial dissection or rupture, bowel perforation (most commonly of the sigmoid co
How is Vascular Ehlers-Danlos syndrome inherited?
Vascular Ehlers-Danlos syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Vascular Ehlers-Danlos syndrome?
Yes — 2 recruiting clinical trials are currently listed for Vascular Ehlers-Danlos syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Vascular Ehlers-Danlos syndrome?
22 specialists and care centers treating Vascular Ehlers-Danlos syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.