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. They affect 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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/ehlers-danlos-syndrome-type-iv-autosomal-dominant/overview/30573 • DATE UPDATED: 2018-01-02

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/

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