What is Ehlers-Danlos syndrome (EDS)?

    Last Updated: October 13, 2024

    Ehlers-Danlos syndrome (EDS) is a group of genetic disorders characterized by faulty synthesis of collagen proteins. Collagen is a vital component of connective tissue, which protects and supports many tissues and organs, including the skin, blood vessels, joints, and lungs. Faulty collagen in EDS can lead to overly elastic skin, joint hypermobility, atrophic scarring (a type of scar that doesn’t heal properly), and fragile blood vessels. Over the years, different types of EDS have been categorized, and in 2017, an international guideline was released with 13 variant classifications, 12 of which have known unique genetic characteristics.[1] [2]

    References

    1. ^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 BThe 2017 international classification of the Ehlers-Danlos syndromes.Am J Med Genet C Semin Med Genet.(2017-03)
    2. ^Miklovic T, Sieg VCEhlers-Danlos SyndromeStatPearls.(2023-01)