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Vascular Ehlers-Danlos syndrome

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Other Names:
Ehlers Danlos syndrome, ecchymotic type; Ehlers Danlos syndrome, arterial type; Ehlers Danlos syndrome, Sack-Barabas type; Ehlers Danlos syndrome, ecchymotic type; Ehlers Danlos syndrome, arterial type; Ehlers Danlos syndrome, Sack-Barabas type; EDS4 (formerly); Ehlers-Danlos syndrome type 4 (formerly); EDS IV (formerly); EDS type 4 (formerly); Ehlers-Danlos syndrome type IV (formerly); Sack-Barabas syndrome; EDS IV; EDS type 4; Ehlers-Danlos syndrome type 4; Ehlers-Danlos syndrome type IV; Arterial-ecchymotic EDS; Ehlers-Danlos syndrome, vascular type; Vascular EDS; vEDS See More
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This disease is grouped under:
Vascular Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs.[1][2] Vascular EDS is usually caused by a change (mutation) in the COL3A1 gene. Rarely, it may be caused by a mutation in the COL1A1 gene.[3] Inheritance is autosomal dominant.[2] Treatment and management is focused on preventing serious complications and relieving signs and symptoms.[2][4]
Last updated: 8/24/2017
The signs and symptoms of vascular Ehlers-Danlos syndrome vary but may include:[2][1]
  • Fragile tissues (including arteries, muscles and internal organs) that are prone to rupture
  • Thin, translucent skin
  • Characteristic facial appearance (thin lips, small chin, thin nose, large eyes)
  • Acrogeria (premature aging of the skin of the hands and feet)
  • Hypermobility of small joints (i.e. fingers and toes)
  • Early-onset varicose veins
  • Pneumothorax
  • Easy bruising
  • Joint dislocations and subluxations (partial dislocations)
  • Congenital dislocation of the hips
  • Congenital clubfoot
  • Receding gums
Last updated: 8/24/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 94 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal eyelash morphology
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ] 		0000499
Abnormal oral frenulum morphology 0000190
Aortic dissection
Tear in inner wall of large artery that carries blood away from heart
0002647
Aplasia/Hypoplasia of the earlobes
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ] 		0009906
Aplasia/Hypoplasia of the eyebrow
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ] 		0100840
Bladder diverticulum 0000015
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Dermal translucency 0010648
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Gastrointestinal infarctions
Death of digestive organ tissue due to poor blood supply
0005244
Global developmental delay 0001263
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypokalemia
Low blood potassium levels
0002900
Internal hemorrhage
Internal bleeding
0011029
Macule
Flat, discolored area of skin
0012733
Melanocytic nevus
Beauty mark
0000995
Mitral valve prolapse 0001634
Pectus excavatum
Funnel chest
0000767
Peripheral arteriovenous fistula 0100784
Pneumothorax
Collapsed lung
0002107
Protruding ear
Prominent ear
Prominent ears
[ more ] 		0000411
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Sprengel anomaly
High shoulder blade
0000912
Telecanthus
Corners of eye widely separated
0000506
Thin skin 0000963
30%-79% of people have these symptoms
Arterial dissection 0005294
Arteriovenous fistulas of celiac and mesenteric vessels 0002642
Flat face
Flat facial shape
0012368
Glaucoma 0000501
Premature birth
Premature delivery of affected infants
Preterm delivery
[ more ] 		0001622
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Respiratory insufficiency
Respiratory impairment
0002093
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Telangiectasia of the skin 0100585
Thin vermilion border
Decreased volume of lip
Thin lips
[ more ] 		0000233
Varicose veins 0002619
5%-29% of people have these symptoms
Abnormal intestine morphology
Abnormality of the intestine
0002242
Abnormal pupil morphology
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality
[ more ] 		0000615
Abnormality of hair texture 0010719
Alopecia
Hair loss
0001596
Aplasia/Hypoplasia of the abdominal wall musculature
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ] 		0010318
Ascending tubular aorta aneurysm
Bulging of wall of large artery located above heart
0004970
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Cigarette-paper scars
'cigarette paper scarring'
Cigarette paper scarring
[ more ] 		0001073
Congenital hip dislocation
Dislocated hip since birth
0001374
Cystocele
Bladder hernia
Dropped bladder
[ more ] 		0100645
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Excessive wrinkled skin 0007392
Gingival overgrowth
Gum enlargement
0000212
Gingivitis
Inflamed gums
Red and swollen gums
[ more ] 		0000230
Hemoptysis
Coughing up blood
0002105
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] 		0002705
Hypoplastic lacrimal duct
Underdeveloped tear duct
0007900
Hypospadias 0000047
Inguinal hernia 0000023
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Keratoconus
Bulging cornea
0000563
Microdontia
Decreased width of tooth
0000691
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] 		0002076
Narrow mouth
Small mouth
0000160
Narrow nasal bridge
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ] 		0000446
Osteoarthritis
Degenerative joint disease
0002758
Osteolysis
Breakdown of bone
0002797
Periodontitis 0000704
Premature loss of primary teeth
Early loss of baby teeth
Premature loss of baby teeth
[ more ] 		0006323
Ptosis
Drooping upper eyelid
0000508
Pulmonary artery aneurysm 0004937
Reduced consciousness/confusion
Disturbances of consciousness
Lowered consciousness
[ more ] 		0004372
Redundant skin
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ] 		0001582
Renovascular hypertension 0100817
Sleep apnea
Pauses in breathing while sleeping
0010535
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] 		0001482
Transient ischemic attack
Mini stroke
0002326
Umbilical hernia 0001537
Uterine prolapse
Sagging uterus
0000139
Uterine rupture 0100718
Vertigo
Dizzy spell
0002321
1%-4% of people have these symptoms
Carotid cavernous fistula 0031157
Percent of people who have these symptoms is not available through HPO
Absent earlobe
Earlobe, absent
Lobeless ears
[ more ] 		0000387
Alopecia of scalp
Pathologic hair loss from scalp
Scalp hair loss
[ more ] 		0002293
Autosomal dominant inheritance 0000006
Cervical insufficiency 0030009
Dilatation of the cerebral artery 0004944
Foot acroosteolysis 0001842
Fragile skin
Skin fragility
0001030
Hypermobility of distal interphalangeal joints
Increased mobility of outermost hinge joint
0006201
Molluscoid pseudotumors 0000993
Osteolytic defects of the phalanges of the hand
Breakdown of small bones of fingers
0009771
Premature delivery because of cervical insufficiency or membrane fragility 0005267
Premature loss of teeth
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ] 		0006480
Spontaneous pneumothorax
Spontaneous collapsed lung
0002108
Showing of 94 |
Last updated: 7/1/2020
Vascular Ehlers-Danlos syndrome is typically caused by a change (mutation) in the COL3A1 gene. Rarely, it may be caused by a mutation in the COL1A1 gene.[3]

The COL3A1 gene provides instructions for making a component of type III collagen. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Type III collagen, specifically, is found in tissues such as the skin, lungs, intestinal walls, and the walls of blood vessels. Mutations in the COL3A1 gene lead to defects in type III collagen and/or reduced amounts of type III collagen. This causes the many signs and symptoms associated with vascular EDS.[5] The COL1A1 gene provides instructions for making part of type I collagen. Type I collagen is the most abundant form of collagen in the human body.[6]
Last updated: 4/21/2017
Vascular Ehlers-Danlos syndrome is typically inherited in an autosomal dominant manner.[2] This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with vascular EDS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Last updated: 4/20/2017
A diagnosis of vascular Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the COL3A1 gene (usually) or the COL1A1 gene (rarely) can be ordered to confirm the diagnosis.[1][2]

Collagen typing performed on a skin biopsy may be recommended if genetic testing is inconclusive. Collagen is a tough, fiber-like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. People with vascular EDS typically have abnormalities in type III collagen.[1][2]
Last updated: 4/20/2017

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
The treatment and management of vascular Ehlers-Danlos syndrome (EDS) aims to relieve signs and symptoms and prevent serious complications. For example, people with vascular EDS have tissue fragility that puts them at high risk for rupturing of arteries, muscles and internal organs. It is therefore important to seek immediate medical attention for any sudden, unexplained pain because emergency surgery may be needed. Pregnant women with vascular EDS should be followed by a maternal-fetal medicine specialist at a center for high-risk pregnancies.[4][2]

Periodic screening may be recommended to diagnose aneurysms or other problems that may not cause obvious symptoms. The risk of injury should be minimized by avoiding contact sports, heavy lifting, and weight training. Elective surgery is also discouraged.[2]

GeneReview's Web site offers more specific information about the treatment and management of vascular EDS. Please click on the link to access this resource.

Please speak to your healthcare provider if you have any questions about your personal medical management plan.

Last updated: 8/24/2017
The long-term outlook (prognosis) for people with vascular Ehlers-Danlos syndrome is generally poor. It is typically considered the most severe form of EDS and is often associated with a shortened lifespan. Among affected people diagnosed as the result of a complication, 25% have experienced a significant medical complication by age 20 and more than 80% by age 40. The median life expectancy for people affected by vascular EDS is 48 years.[4][2]
Last updated: 4/21/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Vascular Ehlers-Danlos syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

  • The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Vascular Ehlers-Danlos syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Ehlers-Danlos Syndrome
    Genetics of Ehlers-Danlos Syndrome
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Vascular Ehlers-Danlos syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Pauker SP & Stoler J. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. February 22, 2016; http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ehlers-danlos-syndromes.
  2. Melanie G Pepin, MS, CGC and Peter H Byers, MD. Ehlers-Danlos Syndrome Type IV. GeneReviews. May 2011; http://www.ncbi.nlm.nih.gov/books/NBK1494/.
  3. 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. March, 2017; 175(1):8-26. http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31552/full.
  4. Pauker SP & Stoler J. Overview of the management of Ehlers-Danlos syndromes. UpToDate. 2016; http://www.uptodate.com/contents/overview-of-the-management-of-ehlers-danlos-syndromes.
  5. COL3A1. Genetics Home Reference. May 2006; http://ghr.nlm.nih.gov/gene/COL3A1.
  6. COL1A1. Genetics Home Reference. April 2013; http://ghr.nlm.nih.gov/gene/COL1A1.