Genetic testing for vascular Ehlers-Danlos syndrome and other variants with fragility of the middle arteries

Open access


Ehlers-Danlos syndrome (EDS) is an umbrella term for various inherited connective tissue disorders associated with mutations in genes involved in extracellular matrix formation. “The 2017 International Classification of Ehlers-Danlos Syndromes and related disorders” identifies 13 clinical types with mutations in 19 distinct genes. The present module focuses on forms with major vascular involvement: vascular EDS (vEDS) caused by heterozygous mutations in COL3A1, “vascular-like” EDS (vlEDS) caused by recurrent mutations in COL1A1, classical EDS with vascular fragility associated with heterozygous mutations in COL5A1, and kyphoscoliotic EDS associated with recessive variations in PLOD1 and FKBP14. The overall prevalence of EDS is estimated between 1/10,000 and 1/25,000 and vEDS accounts for about 5 to 10% of all EDS cases. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. Molecular testing is useful for diagnosis confirmation, as well as differential diagnosis, appropriate genetic counselling and access to clinical trials.

If the inline PDF is not rendering correctly, you can download the PDF file here.

  • 1. Beridze N Frishman WH. Vascular Ehlers-Danlos syndrome: pathophysiology diagnosis and prevention and treatment of its complications. Cardiol Rev 2012; 20(1): 4-7.

  • 2. Callewaert B Malfait F Loeys B De Paepe A. Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol 2008; 22(1): 165-89.

  • 3. Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis 2007; 2: 32.

  • 4. Malfait F Francomano C Byers P Belmont J Berglund B Black J Bloom L Bowen JM Brady AF Burrows NP Castori M Cohen H Colombi M Demirdas S De Backer J De Paepe A Fournel-Gigleux S Frank M Ghali N Giunta C Grahame R Hakim A Jeunemaitre X Johnson D Juul-Kristensen B Kapferer-Seebacher I Kazkaz H Kosho T Lavallee ME Levy H Mendoza-Londono R Pepin M Pope FM Reinstein E Robert L Rohrbach M Sanders L Sobey GJ Van Damme T Vandersteen A van Mourik C Voermans N Wheeldon N Zschocke J Tinkle B. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175(1): 8-26.

  • 5. Barabas AP. Vascular complications in the Ehlers-Danlos syndrome with special reference to the „arterial type” or Sack’s syndrome. J Cardiovasc Surg (Torino) 1972; 13(2): 160-167.

  • 6. Monroe GR Harakalova M van der Crabben SN Majoor-Krakauer D Bertoli-Avella AM Moll FL Oranen BI Dooijes D Vink A Knoers NV Maugeri A Pals G Nijman IJ van Haaften G Baas AF. Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1. Am J Med Genet A 2015; 167(6): 1196-1203.

  • 7. Mehta S Dhar SU Birnbaum Y. Common iliac artery aneurysm and spontaneous dissection with contralateral iatrogenic common iliac artery dissection in classic ehlers-danlos syndrome. Int J Angiol 2012; 21(3): 167-170.

  • 8. Rohrbach M Vandersteen A Yiş U Serdaroglu G Ataman E Chopra M Garcia S Jones K Kariminejad A Kraenzlin M Marcelis C Baumgartner M Giunta C. Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical molecular and biochemical delineation. Orphanet J Rare Dis 2011; 6: 46.

  • 9. Pepin MG Murray ML Byers PH. Vascular Ehlers-Danlos Syndrome. In: Adam MP Ardinger HH Pagon RA et al. editors. GeneReviews® (Internet) 2015; Seattle (WA)

  • 10. Mayer K Kennerknecht I Steinmann B. Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012. Eur J Hum Genet 2013; 21(1).

Journal information
All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 214 192 6
PDF Downloads 149 141 9