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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?

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classical type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis type. Although other forms of the condition exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by most types include joint hypermobility (unusually large range of joint movement) and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Changes (mutations) in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.[1][2][3]
Last updated: 5/22/2015

Are there different types of Ehlers-Danlos syndrome?

Yes. Although all types of Ehlers-Danlos syndrome affect the joints and many also affect the skin, features vary by type. The current classification include six well charcterized types:[4][5]

●Classic (EDS types I and II)
●Hypermobility (EDS type III)
●Vascular (EDS type IV)
●Kyphoscoliosis (EDS type VI)
●Arthrochalasia (EDS type VIIA and B)
●Dermatosparaxis (EDS type VIIC)

Other rare forms of the condition may exist, but they have been reported only in single families or are not well characterized. These include:[5][6]

Brittle cornea syndrome
Ehlers-Danlos/osteogenesis imperfecta syndrome (synonym: EDS/OI syndrome)
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome, fibronectinemic type
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, periodontitis type (EDS type VIII)
Ehlers-Danlos syndrome, progeroid type
Ehlers-Danlos syndrome, spondylocheirodysplastic type
Familial joint instability syndrome (Also known as Ehlers-Danlos syndrome type 11)
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos syndrome with periventricular heterotopia X-linked
Ehlers-Danlos syndrome (EDS type V)
Last updated: 5/27/2015

What is Ehlers-Danlos syndrome vascular type (type 4)?

Ehlers-Danlos syndrome vascular type is a connective tissue disease. Symptoms include thin, translucent skin, easy bruising, characteristic facial appearance, and fragile arteries, intestine, and/or uterus. It is inherited in an autosomal dominant manner and is caused by mutations in the COL3A1 gene.[7]
Last updated: 12/3/2009

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:[8][2]
  • Fragile tissues (including the veins, 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. Complications of this syndrome include the rupture or breaking of 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 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). 

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 do pregnant women without EDS vascular type.[7]

Last updated: 12/3/2009

How common are Ehler Danlos syndrome, vacular type complications?

It is estimated that one in four individuals with Ehler Danlos syndrome, vascular type experience a significant medical problem by age 20 years. More than 80% of individuals with this syndrome experience a significant medical problem by age 40 years.[7] 
Last updated: 12/3/2009

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

Treatment of Ehlers-Danlos syndrome, vascular type may include surgery for artery or bowel complications. Pregnant women with this syndrome should be followed in a high-risk obstetrical program. People with this syndrome should seek immediate medical attention for sudden unexplained pain, and should wear a MedicAlert® bracelet.[7]

People with Ehlers-Danlos syndrome, vascular type require periodic follow-up which may involve screening the arteries using a technique called venous subtraction angiography and MRI or CT scan without contrast material. Arteriograms are not recommended because of the risk of injury to blood vessels. People with the vascular type EDS should also minimize risk of injury by avoiding contact sports, heavy lifting, and weight training. Elective surgery is also discouraged.[7]

Last updated: 12/3/2009

How is Ehlers-Danlos syndrome inherited?

The inheritance pattern of Ehlers-Danlos syndrome varies by type. The vascular form of EDS has an autosomal dominant pattern of inheritance.[7][4]
Last updated: 12/3/2009

What is autosomal dominant inheritance?

Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Autosomal dominant conditions may occur for the first time in a person in a family due to a spontaneous gene mutation, or these conditions may be inherited from an affected parent. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition.[9]
Last updated: 12/3/2009

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 11/27/2014

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.