The 2017 international classification of the Ehlers–Danlos syndromes

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 175 Số 1 - Trang 8-26 - 2017
Fransiska Malfait1, Clair A. Francomano2, Peter H. Byers3, John W. Belmont4, Bo Berglund5, James H. Black6, Lara Bloom7, Jessica Bowen8, Naveena Singh7, Nigel Burrows9, Marco Castori10, Helen Cohen11, Marina Colombi12, Serwet Demirdas13, Julie De Backer1, Anne De Paepe14, Sylvie Fournel‐Gigleux15, Michael Frank16, Neeti Ghali17, Rodney Grahame18, Alan J. Hakim7, Xavier Jeunemaı̂tre19, Birgit Juul‐Kristensen20, Ines Kapferer‐Seebacher21, Hanadi Kazkaz22, Tomoki Kosho23, Mark E. Lavallee7, Howard P. Levy24, Roberto Mendoza‐Londono25, Melanie Pepin3, F. Michael Pope26, Eyal Reinstein27, Leema Robert28, Marianne Rohrbach18, Glenda Sobey8, Tim Van Damme1, Patricia Van der Niepen29, Caroline van Mourik7, Nigel Wheeldon30, Nigel Wheeldon7, Johannes Zschocke31, Brad T. Tinkle32
1Center for Medical Genetics [Ghent] (De Pintelaan 185, 9000 Ghent - Belgium)
2Johns Hopkins University and Hospital (United States)
3Department of Pathology (United States)
4BCM - Baylor College of Medicine (One Baylor Plaza, Houston, Texas 77030 - United States)
5Karolinska Institutet [Stockholm] (Solnavägen 1, 171 77 Solna Stockholm - Sweden)
6Johns Hopkins University School of Medicine [Baltimore] (733 North Broadway, Suite G49 Baltimore, MD 21205-2196 - United States)
7Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium
8Sheffield Children's NHS Foundation Trust (Sheffield - United Kingdom)
9Addenbrooke's Hospital (CB2 2QQ;Cambridge - United Kingdom)
10San Camillo Forlanini Hospital [Rome] (75 Circonvallazione Gianicolense, 00152 Rome RM - Italy)
11RNOH - Royal National Orthopaedic Hospital (Brockley Hill, Stanmore HA7 4LP, Royaume-Uni - United Kingdom)
12UniBs - Università degli Studi di Brescia = University of Brescia (Piazza del Mercato, 15 - 25121 Brescia - Italy)
13Erasmus MC - Erasmus University Medical Center [Rotterdam] (Rotterdam - Netherlands)
14Center for Medical Genetics (Belgium)
15IMoPA - Ingénierie Moléculaire et Physiopathologie Articulaire (Université de Lorraine, Faculté de Médicine, 9 avenue de la Forêt de Haye, BP 184, 54505 Vandoeuvre-les-Nancy Cedex - France)
16CIC AP-HP (hegp Ex-Broussais)/inserm (Hopital Europeen Georges Pompidou PARIS VI 20-40, Rue Leblanc 75908 PARIS CEDEX 15 - France)
17North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow (United Kingdom)
18University Children’s Hospital Zurich (Kinderspital Zürich – Eleonorenstiftung SZT Steinwiesstrasse 75 8032 Zürich Switzerland - Switzerland)
19Service de génétique [CHU HEGP] (CHU HEGP, 20 rue Leblanc 75015 Paris - France)
20Department of Clinical Genetics (United Kingdom)
21Department of Operative and Restorative Dentistry (Austria)
22UCLH - University College London Hospitals (235 Euston Rd, Fitzrovia, London NW1 2BU - United Kingdom)
23Shinshu University Hospital (3 Chome-1-1 Asahi, Matsumoto, Nagano 390-0802 - Japan)
24JHU - Johns Hopkins University (Baltimore, Maryland 410-516-8000 - United States)
25SickKids - The Hospital for sick children [Toronto] (555 University Avenue Toronto, Ontario Canada M5G 1X8 - Canada)
26NPH - Northwick Park Hospital [Harrow, UK] (Watford Road, Harrow HA1 3UJ - United Kingdom)
27Medical Genetics Institute (Israel)
28Guy's and St Thomas' Hospital [London] (Westminster Bridge Road, London SE1 7EH - United Kingdom)
29IWK Health Centre (Halifax - Canada)
30Radboud University Medical Center [Nijmegen] (6500 HB Nijmegen - Netherlands)
31IMU - Innsbruck Medical University = Medizinische Universität Innsbruck (Innrain 52, Christoph-Probst-Platz, 6020 Innsbruck - Austria)
32Children's hospital of Chicago (Chicago - United States)

Tóm tắt

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. © 2017 Wiley Periodicals, Inc.

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American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Tập 175 Số 1

8-26

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