Vascular Ehlers-Danlos syndrome

Información en español Title

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

Categories:

Blood Diseases; Congenital and Genetic Diseases; Connective tissue diseases; Blood Diseases; Congenital and Genetic Diseases; Connective tissue diseases; Lung Diseases; Skin Diseases See More

This disease is grouped under:

Ehlers-Danlos syndromes

Summary Summary

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

Symptoms Symptoms

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.

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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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2020

Do you have updated information on this disease? We want to hear from you.

Cause Cause

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

Inheritance Inheritance

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

Diagnosis Diagnosis

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.

Treatment Treatment

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

Prognosis Prognosis

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

Find a Specialist Find a Specialist

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

The Ehlers-Danlos Society has a EDS Medical Professionals Directory and an EDS Center for Research & Clinical Care.
To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
The The Marfan Foundation has a Directory of Medical Institutions which is comprised of institutions throughout the United States that treat Marfan syndrome and related conditions.

Related Diseases Related Diseases

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 Research

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".

Organizations Organizations

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

Annabelle's Challenge
Europa House
Barcroft Street
Bury
BL9 5BT
United Kingdom
Toll-free: 0800 917 8495
Telephone: 0161 763 8741
E-mail: info@annabelleschallenge.org
Website: https://www.annabelleschallenge.org/
Ehlers-Danlos Society
PO Box 87463
Montgomery Village, MD 20886
Telephone: 410-670-7577
E-mail: info@ehlers-danlos.com , https://www.ehlers-danlos.com/eds-helpline/
Website: https://www.ehlers-danlos.com/
Ehlers-Danlos Support UK
PO Box 748
Borehamwood , WD6 9HU United Kingdom
Toll-free: 0800 907 8518 (in the UK)
Telephone: 0208 736 5604
E-mail: director@ehlers-danlos.org
Website: https://www.ehlers-danlos.org/
Hypermobility Syndromes Association (HMSA)
49 Greek Street
London, WD1 4EG United Kingdom
Telephone: 033 3011 6388
E-mail: http://hypermobility.org/contact-us/
Website: http://hypermobility.org/
Ryan's Challenge
P.O. Box 10418
College Station, TX 77842
Telephone: 844-796-9737
E-mail: info@ryanschallenge.org
Website: https://ryanschallenge.org
The Ehlers-Danlos Society – Europe Office
Office 7
35-37 Ludgate Hill
London, EC4M 7JN United Kingdom
Telephone: +44 203 887 6132
E-mail: info@ehlers-danlos.com , https://www.ehlers-danlos.com/eds-helpline/
Website: https://www.ehlers-danlos.com/
The Marfan Foundation
22 Manhasset Avenue
Port Washington, NY 11050
Toll-free: 1-800-8-MARFAN (800-862-7326)
Telephone: +1-516-883-8712
Fax: +1-516-883-8040
E-mail: https://www.marfan.org/secure/ask
Website: https://www.marfan.org/
The VEDS Movement
22 Manhasset Avenue
Port Washington, NY 11050
Toll-free: 800-862-7326
E-mail: kwright@TheVEDSMovement.org
Website: https://thevedsmovement.org/
The Zebra Network
1122 Kenilworth Drive
Suite 307
Towson, MD 21204
Telephone: 410-825-0995
E-mail: victoria@thezebranetwork.org
Website: http://thezebranetwork.org/

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).

Do you know of an organization? We want to hear from you.

Living With Living With

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.

Learn More Learn More

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.

GARD Answers GARD Answers

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.

Have a question? Contact a GARD Information Specialist.

References References

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.
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/.
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.
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.
COL3A1. Genetics Home Reference. May 2006; http://ghr.nlm.nih.gov/gene/COL3A1.
COL1A1. Genetics Home Reference. April 2013; http://ghr.nlm.nih.gov/gene/COL1A1.