Ehlers-Danlos syndrome, Vascular type (type IV)
Overview
What is vascular Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome (EDS) is a group of related, but distinct, genetic disorders that affect the body's connective tissue. Connective tissue is the material between the cells of the body that connects and supports different tissues and organs. It gives skin strength and elasticity. A structural protein called collagen is one of the major components in connective tissue. People with EDS have an unexpected change (or mutation) in one of the genes that is important in producing or processing collagen. Because of these gene mutations, individuals with EDS do not produce or process collagen properly and their connective tissue does not develop in the right way.
There are six major subtypes of EDS. They are related, but separate disorders. Vascular Ehlers-Danlos syndrome is also known as EDS Type IV. Unlike other types of EDS, people with vascular EDS do not have stretchy skin. The skin is still very fragile and thin enough that you can clearly see some blood vessels underneath. The most important symptom is the walls of all the blood vessels are very weak and they can break easily. If blood vessels break (rupture), the person can lose a lot of blood and, in the worst case, can die.
Symptoms that are common to all types of EDS include skin that is thin and fragile, and can tear or bruise easily. The skin also heals poorly and usually leaves distinctive scars. Loose joints that can be flexed or bent farther than other people can is also common. Joints in EDS are usually prone to popping out of place (dislocation) and chronic pain.
References
- Pepin, M. G., Murray, M. L., Byers, P. H. (2015 November 19). Vascular Ehlers-Danlos Syndrome. GeneReviews. Retrieved December 24, 2017 from https://www.ncbi.nlm.nih.gov/books/NBK1494/
- Genetic and Rare Disease Information Center, Vascular Ehlers-Danlos syndrome. Updated 21APR2017. https://rarediseases.info.nih.gov/diseases/2082/vascular-ehlers-danlos-syndrome Accessed 18JAN2020.
More Overview Content
Are there other names for vascular Ehlers-Danlos syndrome?
How many people have vascular Ehlers Danlos syndrome?
What is the usual abbreviation for vascular Ehlers-Danlos syndrome?
What health problems are part of vascular Ehlers-Danlos syndrome?
Is vascular Ehlers-Danlos syndrome a connective tissue disease?
Is vascular Ehlers-Danlos syndrome more common in some parts of the world?
Are there other names for vascular Ehlers-Danlos syndrome?
Vascular Ehlers-Danlos syndrome is also known as:
- Ehlers-Danlos syndrome type IV
- vEDS
- Ehlers-Danlos syndrome, vascular type
- EDS IV
- EDS type IV
- Sack-Barabas syndrome
References
- Ehlers-Danlos syndrome. (2015 November). Genetics Home Reference. Retrieved December 24, 2017 from https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome
How many people have vascular Ehlers Danlos syndrome?
Vascular Ehlers-Danlos syndrome (vEDS) is believed to affect 1 in 200,000 people, but it may affect as many as 1 in 50,000 people. People with milder cases of vEDS may often are not diagnosed.
References
- Ehlers-Danlos syndrome. (2015 November). Genetics Home Reference. Retrieved December 24, 2017 from https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome
- Pepin, M. G., Murray, M. L., Byers, P. H. (2015 November 19). Vascular Ehlers-Danlos Syndrome. GeneReviews. Retrieved December 24, 2017 from https://www.ncbi.nlm.nih.gov/books/NBK1494/
What is the usual abbreviation for vascular Ehlers-Danlos syndrome?
Common abbreviations for vascular Ehlers-Danlos syndrome include:
- vEDS
- EDS IV
- EDS type IV
References
- Ehlers-Danlos syndrome. (2015 November). Genetics Home Reference. Retrieved December 24, 2017 from https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome
What health problems are part of vascular Ehlers-Danlos syndrome?
Individuals with vascular Ehlers-Danlos syndrome (vEDS) have skin that is thin and very fragile that tears or bruises easily. The skin also heals poorly and usually leaves distinctive scars called "cigarette paper scars". Joints in EDS are loose and usually prone to popping out of place (dislocation) and chronic pain. The most life-impacting symptom is the walls of all the blood vessels in individuals with vEDS are very weak and they can break easily. If blood vessels break (rupture), it can become life-threatening and the person can lose a lot of blood. Intestinal and uterine rupture can also happen more frequently. People with vascular EDS may also have a distinctive facial appearance that makes them look prematurely aged. Some facial features include thin upper lips and nose with large eyes.
References
- De Paepe, A., Malfait, F. (2012). The Ehlers-Danlos syndrome, a disorder with many faces. Clinical Genetics, 82, 1-11. Retrieved September 19, 2017 from http://www.unsed.org/media/PDF/EDS%20review.%20clin.gen.%202012.pdf
- Ehlers-Danlos syndrome. (2007). National Organization for Rare Disorders. Retrieved September 19, 2017 from https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/
- Germain, D. P. (2007). Ehlers-Danlos syndrome type IV. Orphanet Journal of Rare Diseases, 2, 32. Retrieved September 22, 2017 from https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-32
- Pepin, M. G., Murray, M. L., Byers, P. H. (2015 November 19). Vascular Ehlers-Danlos Syndrome. GeneReviews. Retrieved December 24, 2017 from https://www.ncbi.nlm.nih.gov/books/NBK1494/
- Pepin, M. G.1, Schwarze, U., Rice, K. M., Liu, M., Leistritz, D., Byers, P. H. (2014). Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Genetics in Medicine, 16, 881-888. Retrieved September 21, 2017 from https://www.nature.com/gim/journal/v16/n12/full/gim201472a.html
Is vascular Ehlers-Danlos syndrome a connective tissue disease?
People with vascular Ehlers-Danlos syndrome (vEDS) have an unexpected change (or mutation) in a gene that is important in processing collagen. Collagen is one of the major components in connective tissue. Connective tissue is the material between the cells of the body that connects and supports other tissue and organs. It gives skin elasticity. Because of this gene mutation, people with vascular EDS have collagen that doesn't work properly, and their connective tissue does not develop in the right way. This is a problem especially with the blood vessels. The walls of the blood vessels (and some other major organs) are weak and can be easily broken (ruptured).
References
- Pepin, M. G., Murray, M. L., Byers, P. H. (2015 November 19). Vascular Ehlers-Danlos Syndrome. GeneReviews. Retrieved December 24, 2017 from https://www.ncbi.nlm.nih.gov/books/NBK1494/
- Genetic and Rare Disease Information Center, Vascular Ehlers-Danlos syndrome. Updated 21APR2017. https://rarediseases.info.nih.gov/diseases/2082/vascular-ehlers-danlos-syndrome Accessed 18JAN2020.
Is vascular Ehlers-Danlos syndrome more common in some parts of the world?
As of 2020, there are no known ethnicities or parts of the world that are more likely to have vascular Ehlers-Danlos syndrome. Experts believe that people of all races and ethnicities can have vascular Ehlers-Danlos syndrome.
References
- Pepin, M. G., Murray, M. L., Byers, P. H. (2015 November 19). Vascular Ehlers-Danlos Syndrome. GeneReviews. Retrieved December 24, 2017 from https://www.ncbi.nlm.nih.gov/books/NBK1494/
- Ehlers-Danlos syndrome. (2007). National Organization for Rare Disorders. Retrieved September 19, 2017 from https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/
