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Vascular Ehlers-Danlos Syndrome

Last updated Dec. 24, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Vascular Ehlers-Danlos Syndrome is a rare, inherited, connective tissue disorder caused by abnormalities in the formation of collagen, an important and the most abundant protein in the body.


What are the other Names for this Condition? (Also known as/Synonyms)

  • EDS, Vascular Type
  • Ehlers-Danlos Syndrome, Arterial Type
  • Sack-Barabas Syndrome

What is Vascular Ehlers-Danlos Syndrome? (Definition/Background Information)

  • Vascular Ehlers-Danlos Syndrome is a rare, inherited, connective tissue disorder caused by abnormalities in the formation of collagen, an important and the most abundant protein in the body
    • Connective tissue is made up of structural proteins known as collagens and fibroblast cells, which are arranged in rows
    • These tissues connect bone-bone and muscle-bone, and give strength, support, and elasticity to various structures of the body, like skin, joints, and walls of blood vessels
    • There are 3 types of connective tissue, namely, tendons, ligaments and cartilages
  • The vascular type is considered the most severe among different forms of Ehlers-Danlos Syndrome (EDS). The symptoms of the disorder include extreme joint flexibility, susceptibility for joint dislocations, loose skin, spontaneous bleeding, formation of aneurysms, varicose veins at a young age, intestinal rupture, and collection of air and blood in chest cavity
  • Vascular Ehlers-Danlos Syndrome is caused by mutation(s) in the COL3A1 gene. This gene codes for pro-alpha III chains of type III collagen. This type of collagen is found in the skin, walls of blood vessels, intestinal walls, and lungs. A mutation in COL3A1 interferes with the assembly of the collagen fibers, compromising the structural integrity and function of blood vessels, tissues, and organs.
  • The mutation in this gene is inherited in an autosomal dominant manner. Therefore, having a positive family history of the condition is a major risk factor for being diagnosed with Vascular EDS. Since the disorder is caused by inherited gene mutations; presently, there are no measures available to prevent its occurrence
  • The diagnosis of Vascular Ehlers-Danlos Syndrome is made by conducting a variety of exams including a physical examination, symptom assessment, evaluation of family medical history, collagen typing, imaging tests to identify heart abnormalities and aneurysms, and molecular genetic testing to ascertain gene mutations
  • The treatment options involve medications for pain and blood pressure, physical therapy, and surgery to correct bone dislocations. The long-term prognosis of Vascular Ehlers-Danlos Syndrome is poor, owing to the development of complications. Such complications include aortic dissection, collapsed lungs, and damage to internal organs. The median life-expectancy of the affected individual is typically less than 50 years

Who gets Vascular Ehlers-Danlos Syndrome? (Age and Sex Distribution)

  • Vascular Ehlers-Danlos Syndrome is a rare form of Ehlers-Danlos Syndrome, with an incidence rate of 1 in 250,000 individuals
  • The symptoms of Vascular EDS may be present at birth, or develop later in one’s life
  • There is no gender, ethnic, or racial bias in the occurrence of this disorder

What are the Risk Factors for Vascular Ehlers-Danlos Syndrome? (Predisposing Factors)

The risk factors for developing Vascular Ehlers-Danlos Syndrome include:

  • A family history of the disorder
  • Having parents, who are close blood relatives (such as first cousins)

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Vascular Ehlers-Danlos Syndrome? (Etiology)

Vascular Ehlers-Danlos Syndrome is caused by mutation(s) in the COL3A1 gene.

  • Under normal circumstances, the gene codes for the pro-alpha 1(III) chains of type III collagen. 3 such chains form the type III pro-collagen, which then undergoes an enzymatic maturation process to form collagen III
  • The mature collagen III protein, in combination with other such proteins, forms the collagen matrix, to yield flexibility and strength to tissues
  • When mutated, the pro-alpha 1(III) chain may be structurally and functionally non-viable. This may result in reduced or absent interaction(s) with other collagen proteins, leading to a disruption in the collagen matrix
  • The organs or tissues, where collagen III is abundant, are affected, which leads to the symptoms

COL3A1 gene mutation is inherited in an autosomal dominant manner. In this type of inheritance, a single copy of a defective gene in every cell of an individual is sufficient to cause the disorder. Typically, one inherits Vascular EDS from an affected parent.

What are the Signs and Symptoms of Vascular Ehlers-Danlos Syndrome?

The presentations of Vascular Ehlers-Danlos Syndrome may vary in type and severity among the affected individuals. The following are the signs and symptoms of Vascular EDS:

  • Presence of loose, elastic skin; abnormally-thin skin
  • Prominent veins visible under very translucent skin
  • A tendency to bruise easily; extreme sensitivity to bruising
  • Degeneration and parchment-like (papyraceous) scarring of skin, which may expand
  • Loose joints (laxity of joints); overly-flexible joints i.e., a range of joint movement beyond what is normally observed
  • Joint pain; vulnerability to joint dislocations
  • A tendency to develop early-onset osteoarthritis
  • Congenital clubfoot
  • Hip dislocation present at birth
  • Fragile muscles, prone to rupture
  • Vascular malformations such as abnormal connections between arteries and veins (arteriovenous fistula)
  • Thin, fragile blood vessels, may predispose an individual to hemorrhages
  • Weakening of arterial walls; formation of aneurysms
  • Vulnerability to spontaneous bleeding due to rupture of arteries
  • Aortic dissection (when the inner layers of aorta get torn)
  • Mitral valve abnormalities
  • Low levels of subcutaneous fat in face and limbs
  • Abnormal facial features such as:
    • Pinched nose
    • High cheekbones
    • Thin lips
    • Malformed earlobes
    • Protruding eyes
    • Receding gums
  • Varicose vein formation at a young age
  • Fragile internal organs, vulnerable to rupture
  • Collection of blood and air in the chest cavity (pneumohemothorax)
  • Dehiscence (wound layer separation during or after surgery)
  • In pregnant women with this condition
    • Bleeding from the uterine arteries
    • Uterine rupture
    • Uterine tearing and rupture during childbirth

How is Vascular Ehlers-Danlos Syndrome Diagnosed?

The diagnosis of Vascular Ehlers-Danlos Syndrome is undertaken with the help of the following tests and exams:

  • A thorough physical examination and an assessment of symptoms
  • An evaluation of personal and family medical history
  • Measurement of skin hyperextensibilty, by pulling up skin, till resistance is registered
  • Beighton scale hypermobility testing for joints: This operates on a 9-point system; a score of over 6 may indicate hypermobility
  • Collagen typing using a skin biopsy sample
  • Collagen skin mutation testing
  • Electron microscopic observation of a skin sample
  • Imaging tests such as X-ray, computed tomography (CT) scanning, or magnetic resonance imaging (MRI):
    • To visualize bone deformities
    • For visualizing structural abnormalities of the heart, along with echocardiography
    • To monitor aneurysm
  • Genetic testing to confirm mutations in genes that cause EDS

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Vascular Ehlers-Danlos Syndrome?

Vascular Ehlers-Danlos Syndrome can lead to the following complications:

  • Bruising of skin and permanent scarring
  • Repeated joint dislocations; severe joint pain
  • Early-onset arthritis
  • Delayed wound healing
  • Spontaneous rupture of blood vessels
  • Intestinal rupture
  • Aortic root dilatation (enlargement of the aorta)
  • Aortic dissection (tear in aorta)
  • Mitral valve regurgitation (blood flowing back into the heart)
  • Collapsed lungs (pneumothorax)
  • Progressive loss of motor function
  • Uterine or arterial rupture during pregnancy
  • Vaginal tear and uterine rupture at childbirth

How is Vascular Ehlers-Danlos Syndrome Treated?

The treatment for Vascular Ehlers-Danlos Syndrome is symptomatic, as there is no cure for the disorder. Often, a coordinated effort by professionals from various specialties may be needed to help the affected individual achieve a certain quality of life.

The following are some measures for treating the symptoms of Vascular EDS:

  • Medications for pain relief: The strength of medication administered depends on the severity of pain
  • Medications, to reduce blood pressure (necessitated by fragile blood vessels), such as the following:
    • Beta blockers
    • Angiotensin-converting enzyme inhibitors
    • Calcium channel blockers
    • Diuretic pills
  • Proper and balanced nutrition
  • Vitamin C supplements may be recommended to aid in collagen synthesis and wound healing
  • Physiotherapy to strengthen muscles around weak joints
  • Braces to stabilize joints and minimize dislocations
  • Rarely, surgery to repair joints damaged by repeated dislocations may be performed, if necessary

How can Vascular Ehlers-Danlos Syndrome be Prevented?

Vascular Ehlers-Danlos Syndrome is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • In individuals, who are diagnosed with EDS, the following may be helpful in reducing injuries, dislocations, and bleeding:
    • Avoiding contact sports and other activities that may cause injury
    • Wearing padding over joints that are vulnerable to dislocation
    • Avoiding unnecessary surgical procedures, since wound healing may be compromised
    • If surgery or dental procedures become necessary, then taking precautions against bleeding before, during, and after the procedure or surgery
    • Proper counseling and medical care for women before and during pregnancy, as well as during and after childbirth 
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Vascular EDS

Regular medical screening at periodic intervals with tests and physical examinations are crucial and highly recommended.

What is the Prognosis of Vascular Ehlers-Danlos Syndrome? (Outcomes/Resolutions)

  • The prognosis of Vascular Ehlers-Danlos Syndrome is normally poor, as complications develop in a significant proportion of the affected individuals. It has been observed that about 80% develop serious complications by age 40 years
  • The median life expectancy of those with the condition is 48 years

Additional and Relevant Useful Information for Vascular Ehlers-Danlos Syndrome:

Please visit our Congenital & Genetic Disorders Health Center for more physician-approved health information:

http://www.dovemed.com/diseases-conditions/congenital-genetic-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 7, 2017
Last updated: Dec. 24, 2018