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

@article{Rakhmanov2018GeneticTF,
  title={Genetic testing for vascular Ehlers-Danlos syndrome and other variants with fragility of the middle arteries},
  author={Yeltay Rakhmanov and Paolo Enrico Maltese and Alice Bruson and Marco Castori and Tommaso Beccari and Munis Dundar and Matteo Bertelli},
  journal={The EuroBiotech Journal},
  year={2018},
  volume={2},
  pages={42 - 44}
}
Abstract 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… 

References

SHOWING 1-10 OF 12 REFERENCES

Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1

TLDR
Familial occurrence of a phenotype resembling vascular EDS in a mother and her two sons, who all died at an early age from arterial ruptures are described.

Ehlers-Danlos syndromes and Marfan syndrome.

Vascular Ehlers-Danlos Syndrome: Pathophysiology, Diagnosis, and Prevention and Treatment of Its Complications

TLDR
The results of a study using the b-blocker celiprolol demonstrated a reduction in vascular complications of VEDS, and the mechanisms of benefit may be related to a Reduction in vascular hemodynamic stress with exercise and/or through a reduce in transforming growth factor-b.

The 2017 international classification of the Ehlers–Danlos syndromes

TLDR
The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes, and revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders.

Ehlers-Danlos syndrome type IV

  • D. Germain
  • Medicine
    Orphanet journal of rare diseases
  • 2007
TLDR
In the absence of specific treatment for Ehlers-Danlos syndrome type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures, particularly when caring for a vascular complication in a patient suffering from EDS type IV.

[Vascular Ehlers-Danlos syndrome].

  • M. Frank
  • Medicine
    La Revue du praticien
  • 2009
TLDR
Any patient diagnosed with vascular type EDS presenting with an acute pain syndrome should be considered as a trauma situation and be investigated straightaway by CT-scan or MRI testing, in order to eliminate a life threatening complication.

Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012

European Journal of Human Genetics (2013) 21, doi:10.1038/ejhg.2012.162; published online 15 August 2012Update to: European Journal of Human Genetics (2009) 18, 1069; doi:10.1038/ejhg.2009.227;

Common iliac artery aneurysm and spontaneous dissection with contralateral iatrogenic common iliac artery dissection in classic ehlers-danlos syndrome.

  • S. MehtaS. DharY. Birnbaum
  • Medicine
    The International journal of angiology : official publication of the International College of Angiology, Inc
  • 2012
TLDR
A 43-year-old man who developed a spontaneous dissection of a right iliac artery aneurysm after performing vigorous physical exercise and a mutation in the COL5A1 gene associated with EDS, classic type is described.

Vascular complications in the Ehlers-Danlos syndrome, with special reference to the "arterial type" or Sack's syndrome.

  • A. Barabas
  • Medicine
    The Journal of cardiovascular surgery
  • 1972