Vascular variant of Ehlers–Danlos syndrome

Vascular variant of Ehlers–Danlos syndrome is a type of Ehlers–Danlos syndrome. It was formerly categorized as Type 4.

Vascular variant of Ehlers–Danlos syndrome

Signs and symptoms

Symptoms of vascular EDS include:

  • Skin quality
    • Easily bruised and may present with skin discoloration[1]
    • Pale, smooth, velvety[1]
    • Thin skin with visible veins[1]
    • Premature aging seen on limb extremities[1]
  • Characteristic facial features (facial dysmorphy)
    • Large, sunken eyes with discoloration surrounding them[1]
    • Telangiectasia on the eyelids[1]
    • Sunken cheeks with the bones presenting as prominent[1]
    • Nose and lips are thin while ears generally do not have lobes[2]
  • Affected people are frequently short, and have thin scalp hair with an undersized chin
  • Rupture of arteries, uterus, or intestines

Diagnosis

When suspected based on symptoms testing may be done to confirm diagnosis. They include:

  • Demonstration of cultured fibroblasts synthesize abnormal type III procollagen molecules[1]
  • Identification of a mutation in the gene for type III procollagen (COL3A1)[1]

Diagnosis in children can be difficult due to incomplete development and the risk of misdiagnosis of symptoms. As a result of this, there are a variety of differential diagnostic techniques.

  • Coagulation disorders[1]
  • Assessing for lesions and bruising on the head[1]
  • Ischemic stroke[1]

Other aspects

  • Hypermobility of large joints and hyperextensibility of the skin are atypical[3]
  • Autosomal dominant disorder[3]
  • Joint hypermobility is present, but generally confined to the small joints (fingers, toes)[3]
  • Other common features include club foot, tendon and/or muscle rupture[3]
  • Decreased amount of fat under the skin[4]

Treatment

Due to its uncommon nature, there is not a lot of information available in regards to treatment. The focus tends to be on symptom management, management of complications, and preventative measures.[1]

  • Arterial, digestive or uterine complications require hospitalization and being monitored in an ICU[1]
  • Surgery for fatal complications[1]

Epidemiology

The prevalence of Vascular EDS is between 1/10,000 and 1/25,000 people with no ethnicity-linked predisposition.[1] Of the six types, Vascular accounts for roughly 5 to 10% of all EDS cases.[1]

Complications

Vascular

  • Pseudoaneurysm[1]
  • Vascular lesions (nature is disputed) due to tears in the lining of the arteries or deterioration of congenitally thin and fragile tissue[1]
  • Enlarged arteries[1]

Gastrointestinal

  • 50% risk of colonic perforation[1]

Obstetric

  • Pregnancy increases the likelihood of uterine rupture[1]
  • Maternal mortality around 12%[1]
  • Uterine hemorrhage during the postpartum recovery[1]

References
  1. Pepin M, Schwarze U, Superti-Furga A, Byers PH (March 2000). "Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type". The New England Journal of Medicine. 342 (10): 673–80. doi:10.1056/NEJM200003093421001. PMID 10706896.
  2. "Ehlers-Danlos syndromes". rarediseases.info.nih.gov. 20 April 2017. Archived from the original on 24 September 2017. Retrieved 23 September 2017. This article incorporates text from this source, which is in the public domain.
  3. Germain DP (July 2007). "Ehlers-Danlos syndrome type IV". Orphanet Journal of Rare Diseases. 2 (1): 32. doi:10.1186/1750-1172-2-32. PMC 1971255. PMID 17640391.
  4. Ferri FF (2016). Ferri's Netter Patient Advisor. Elsevier Health Sciences. p. 939. ISBN 9780323393249. Archived from the original on 2017-11-05.
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