The 2017 International Classification of the Ehlers-Danlos Syndromes

The 2017 International Classification of the Ehlers-Danlos Syndromes

2017 | FRANSISKA MALFAIT, * CLAIR FRANCOMANO, PETER BYERS, JOHN BELMONT, BRITTA BERGLUND, JAMES BLACK, LARA BLOOM, JESSICA M. BOWEN, ANGELA F. BRADY, NIGEL P. BURROWS, MARCO CASTORI, HELEN COHEN, MARINA COLOMBI, SERWET DEMIRDA S, JULIE DE BACKER, ANNE DE PAEPE, SYLVIE FOURNEL-GIGLEUX, MICHAEL FRANK, NEETI GHALI, CECILIA GIUNTA, RODNEY GRAHAME, ALAN HAKIM, XAVIER JEUNEMAITRE, DIANA JOHNSON, BIRGIT JUUL-KRISTENSEN, INES KAPFERER-SEEBACHER, HANADI KAZKAZ, TOMOKI KOSHO, MARK E. LAVALLEE, HOWARD LEVY, ROBERTO MENDOZA-LON DONO, MELANIE PEPIN, F. MICHAEL POPE, EYAL REINSTEIN, LEE MA ROBERT, MARIANNE ROHRBACH, LYNN SANDERS, GLEND A. SOB EY, TIM VAN DAMME, ANTHONY VANDERSTEEN, CAROLINE VAN MOURIK, NICOL VOERMANS, NIGEL WHEELEDON, JOHANNES ZSCHOCKE, AND BRAD TINKLE
The 2017 International Classification of the Ehlers–Danlos Syndromes (EDS) recognizes 13 subtypes, including classical EDS (cEDS), classical-like EDS (clEDS), cardiac-valvular EDS (cvEDS), vascular EDS (vEDS), hypermobile EDS (hEDS), arthrochalasia EDS (aEDS), dermatosparaxis EDS (dEDS), and kyphoscoliotic EDS (kEDS). The classification aims to provide a clinical framework for diagnosis and research, acknowledging the genetic and phenotypic heterogeneity of EDS. For most subtypes, molecular confirmation is required, except for hEDS, which is diagnosed clinically. The revised classification includes updated clinical criteria for each subtype, with specific features distinguishing them from other connective tissue disorders. For example, cEDS is characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility, while clEDS is associated with skin hyperextensibility, velvety skin, and recurrent dislocations. cvEDS involves severe cardiac-valvular problems, and vEDS is marked by vascular fragility. hEDS is diagnosed based on generalized joint hypermobility and other features, with a revised Beighton score to account for age and sex. The classification also proposes a pathogenetic scheme grouping EDS subtypes based on shared molecular pathways. Molecular testing, including next-generation sequencing and copy number variant analysis, is recommended for diagnosis. The classification emphasizes the importance of genetic testing for most subtypes, while hEDS remains clinically diagnosed. The revised classification aims to improve diagnostic accuracy, guide research, and inform clinical management of EDS.The 2017 International Classification of the Ehlers–Danlos Syndromes (EDS) recognizes 13 subtypes, including classical EDS (cEDS), classical-like EDS (clEDS), cardiac-valvular EDS (cvEDS), vascular EDS (vEDS), hypermobile EDS (hEDS), arthrochalasia EDS (aEDS), dermatosparaxis EDS (dEDS), and kyphoscoliotic EDS (kEDS). The classification aims to provide a clinical framework for diagnosis and research, acknowledging the genetic and phenotypic heterogeneity of EDS. For most subtypes, molecular confirmation is required, except for hEDS, which is diagnosed clinically. The revised classification includes updated clinical criteria for each subtype, with specific features distinguishing them from other connective tissue disorders. For example, cEDS is characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility, while clEDS is associated with skin hyperextensibility, velvety skin, and recurrent dislocations. cvEDS involves severe cardiac-valvular problems, and vEDS is marked by vascular fragility. hEDS is diagnosed based on generalized joint hypermobility and other features, with a revised Beighton score to account for age and sex. The classification also proposes a pathogenetic scheme grouping EDS subtypes based on shared molecular pathways. Molecular testing, including next-generation sequencing and copy number variant analysis, is recommended for diagnosis. The classification emphasizes the importance of genetic testing for most subtypes, while hEDS remains clinically diagnosed. The revised classification aims to improve diagnostic accuracy, guide research, and inform clinical management of EDS.
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