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The 2017 international classification of the Ehlers-Danlos syndromes

Fransiska Malfait 1 Clair Francomano 2 Peter H Byers 3 John Belmont 4 Britta Berglund 5 James Black 6 Lara Bloom Jessica Bowen 7 Nigel Burrows 8 Marco Castori 9 Helen Cohen 10 Marina Colombi 11 Serwet Demirdas 12 Julie de Backer 1 Anne de Paepe 13 Sylvie Fournel-Gigleux 14 Michael Bj Frank 15 Neeti Ghali 16 Cecilia Giunta 17 Rodney Grahame Alan Hakim 18 Xavier Jeunemaitre 19 Diana Johnson 20 Birgit Juul-Kristensen 21 Ines Kapferer-Seebacher 22 Hanadi Kazkaz 23 Tomoki Kosho 24 Mark Lavallee Howard Levy 25 Roberto Mendoza-Londono 26 Melanie Pepin 3 F. Michael Pope 27 Eyal Reinstein 28 Leema Robert 29 Marianne Rohrbach 17 Lynn Sanders Glenda Sobey 7 Tim van Damme 1 Anthony A Vandersteen 30 Caroline van Mourik Nicol Voermans 31 Nigel Wheeldon Johannes Zschocke 32 Brad Tinkle 33 
Abstract : The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes.
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Submitted on : Wednesday, February 14, 2018 - 5:22:14 PM
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Fransiska Malfait, Clair Francomano, Peter H Byers, John Belmont, Britta Berglund, et al.. The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Wiley, 2017, 175 (1), pp.8 - 26. ⟨10.1002/ajmg.c.31552⟩. ⟨hal-01709259⟩



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