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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ehlers-Danlos syndrome, vascular type


Other Names for this Disease
  • Ehlers Danlos syndrome, ecchymotic type
  • Ehlers Danlos syndrome, arterial type
  • Ehlers Danlos syndrome, Sack-Barabas type
  • EDS4 (formerly)
  • Ehlers-Danlos syndrome type 4 (formerly)
Related Diseases
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Overview

Ehlers-Danlos syndrome (EDS), vascular type 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. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs.[1][2] EDS, vascular type is caused by changes (mutations) in the COL3A1 gene and is inherited in an autosomal dominant manner.[2] Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.[2][3]
Last updated: 5/29/2015

References

  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. Susan P Pauker, MD, FACMG; Joan Stoler, MD. Overview of the management of Ehlers-Danlos syndromes. UpToDate. March 2014; Accessed 5/22/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ehlers-Danlos syndrome, vascular type. 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

  • 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 Ehlers-Danlos syndrome, vascular type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Ehlers Danlos syndrome, ecchymotic type
  • Ehlers Danlos syndrome, arterial type
  • Ehlers Danlos syndrome, Sack-Barabas type
  • EDS4 (formerly)
  • Ehlers-Danlos syndrome type 4 (formerly)
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.