Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Ehlers-Danlos syndrome, vascular type


Other Names for this Disease
  • EDS IV
  • EDS IV (formerly)
  • EDS type 4
  • EDS4 (formerly)
  • Ehlers Danlos syndrome, arterial type
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.

Your Question

What is Ehlers-Danlos syndrome vascular type? What are the symptoms and how is it treated?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Ehlers-Danlos syndrome, vascular type?

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

What are the signs and symptoms of Ehlers-Danlos syndrome, vascular type?

The signs and symptoms of Ehlers-Danlos syndrome (EDS), vascular type 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 dislocation)
  • Congenital dislocation of the hips
  • Congenital clubfoot
  • Receding gums
Last updated: 5/27/2015

Can Ehler Danlos syndrome, vascular type cause serious complications?

Yes. Ehlers-Danlos syndrome, vascular type can cause serious complications. People with this syndrome are at risk for ruptured (broken) blood vessels, a tear (perforation) in the wall of the intestines, or a rupture of a body organ or muscle. These complications can be life threatening and may result in internal bleeding, stroke, and/or shock. Other complications include the ballooning of a wall of a blood vessel or artery (aneurysm) and abnormal connections between arteries and veins (arteriovenous fistulae).[2][1]

In addition, women with the vascular type of EDS have as much as a 12% higher risk for death from arterial rupture or uterine rupture during pregnancy than pregnant women without EDS vascular type.[2][1]
Last updated: 5/29/2015

How might Ehlers-Danlos syndrome, vascular type be treated?

The treatment and management of Ehlers-Danlos syndrome (EDS), vascular type is focused on relieving associated signs and symptoms and preventing serious complications. For example, people with EDS, vascular type have tissue fragility that puts them at high risk for rupture of arteries, muscles and internal organs. It is, therefore, important to seek immediate medical attention for any sudden, unexplained pain as emergency surgery may be indicated. Pregnant women with EDS, vascular type should be followed by a maternal-fetal specialists at a high-risk perinatal center.[3][2]

Periodic screening may be recommended to diagnose aneurysms or other problems that may not be associated with obvious symptoms. People with the EDS, vascular type should also minimize risk of injury 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 EDS, vascular type. 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: 5/28/2015

What is the long-term outlook for people with Ehlers-Danlos syndrome, vascular type?

The long-term outlook (prognosis) for people with Ehlers-Danlos syndrome (EDS), vascular type 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 years and more than 80% by age 40 years. The median life expectancy for people affected by EDS, vascular type is 48 years.[3][2]
Last updated: 5/29/2015

References
  • Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.
  • 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/.
  • Susan P Pauker, MD, FACMG; Joan Stoler, MD. Overview of the management of Ehlers-Danlos syndromes. UpToDate. March 2014; Accessed 5/22/2015.
Other Names for this Disease
  • EDS IV
  • EDS IV (formerly)
  • EDS type 4
  • EDS4 (formerly)
  • Ehlers Danlos syndrome, arterial type
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.