Non-vascular Ehlers-Danlos Syndromes (NV-EDS)

Non-vascular Ehlers-Danlos Syndromes (NV-EDS)

Ehlers-Danlos Syndromes (EDSs) are a heterogeneous group of connective tissue diseases that share a very evocative clinical triad: skin hyperelasticity, joint hypermobility and tissue fragility . Most EDSs have a known molecular basis, and result from pathogenic variants in genes involved in the biosynthesis and homeostasis of collagens and proteoglycans. These biomolecules contribute to the physical properties of the extracellular matrix of all tissues and organs. Since connective tissue is ubiquitous in the body, the manifestations of EDSs are multi-visceral. This can make these disorders particularly difficult to diagnose and manage.

The prevalence of non-vascular Ehlers-Danlos syndromes (NV-EDS) is estimated at 1 person per 5,000 for the most common type (the hypermobile type). Other types of NV-EDSs are much rarer (e.g. about 1/30,000 for the classic EDS).

In 2017, 13 types of NV-EDSs have been identified :

  • the vascular EDS
  • the 12 others concern non-vascular EDSs, whose clinical manifestations vary according to the genes involved, with the main symptoms observed being joint hyperlaxity, skin hyperelasticity, and problems of tissue fragility.

Reference centers

Coordinating center : Raymond-Poincaré hospital (adults)
Responsible : Dr Karelle Benistan

Coordinating center : Necker-Enfants malades hospital (children)
Responsible : Dr Caroline Michot

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