{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T12:39:06Z","timestamp":1790167146763,"version":"4.1.0"},"reference-count":17,"publisher":"BMJ","issue":"Suppl 1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["RMD Open"],"accepted":{"date-parts":[[2018,10,4]]},"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p>Mixed connective tissue disease (MCTD) is a complex overlap disease with features of different autoimmune connective tissue diseases (CTDs) namely systemic sclerosis, poly\/dermatomyositis and systemic lupus erythematous in patients with antibodies targeting the U1 small nuclear ribonucleoprotein particle. In this narrative review, we summarise the results of a systematic literature research which was performed as part of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases project, aimed at evaluating existing clinical practice guidelines (CPGs) or recommendations. Since no specific CPGs on MCTD were found, other CPGs developed for other CTDs were taken into consideration in order to discuss what can be applied to MCTD even if designed for other diseases. Three major objectives were proposed for the future development of CPGs: MCTD diagnosis (diagnostic criteria), MCTD initial and follow-up evaluations, MCTD treatment. Early diagnosis, epidemiological data, assessment of burden of disease and QOL aspects are among the unmet needs identified by patients.<\/jats:p>","DOI":"10.1136\/rmdopen-2018-000783","type":"journal-article","created":{"date-parts":[[2018,10,19]],"date-time":"2018-10-19T08:52:51Z","timestamp":1539939171000},"page":"e000783","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":44,"title":["Mixed connective tissue disease: state of the art on clinical practice guidelines"],"prefix":"10.1136","volume":"4","author":[{"given":"Benjamin","family":"Chaigne","sequence":"first","affiliation":[{"name":"Service de M\u00e9decine Interne, H\u00f4pital Cochin, Centre de R\u00e9f\u00e9rence Maladies syst\u00e9miques Autoimmunes Rares d\u2019Ile de France, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), Universit\u00e9 Paris Descartes, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7451-0271","authenticated-orcid":false,"given":"Carlo Alberto","family":"Scir\u00e8","sequence":"additional","affiliation":[{"name":"Section of Rheumatology, Department of Medical Sciences, University of Ferrara, Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosaria","family":"Talarico","sequence":"additional","affiliation":[{"name":"Rheumatology Unit, AOU Pisana, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1193-0097","authenticated-orcid":false,"given":"Tobias","family":"Alexander","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Clinical Immunology, Charit\u00e9 University Hospital Berlin, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahir","family":"Amoura","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Hospital Piti\u00e9-Salp\u00eatri\u00e8re, Assistance Publique-H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadej","family":"Avcin","sequence":"additional","affiliation":[{"name":"Department of Allergology Rheumatology and Clinical Immunology, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6529-6258","authenticated-orcid":false,"given":"Lorenzo","family":"Beretta","sequence":"additional","affiliation":[{"name":"Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Doria","sequence":"additional","affiliation":[{"name":"Rheumatology Unit Department of Medicine, AO Padova and University of Padua, Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurelien","family":"Guffroy","sequence":"additional","affiliation":[{"name":"Service de rhumatologie H\u00f4pitaux Universitaires de Strasbourg, Centre National de R\u00e9f\u00e9rence des Maladies Syst\u00e9miques et Auto-immunes Rares Grand-Est Sud-Ouest, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Guimar\u00e3es","sequence":"additional","affiliation":[{"name":"Liga Portuguesa Contra as Doen\u00e7as Reum\u00e1ticas, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c9ric","family":"Hachulla","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9decine Interne et Immunologie Clinique, Centre de R\u00e9f\u00e9rence des Maladies Syst\u00e9miques et Auto-Immunes Rares du Nord-Ouest, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Krieg","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Universit\u00e4tsklinikum K\u00f6ln, Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Launay","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9decine Interne et Immunologie Clinique, Centre de R\u00e9f\u00e9rence des Maladies Syst\u00e9miques et Auto-Immunes Rares du Nord-Ouest, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gemma","family":"Lepri","sequence":"additional","affiliation":[{"name":"Division of Rheumatology and Scleroderma Unit, Department of Clinical and Experimental Medicine AOU Careggi, University of Florence, Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pia","family":"Moinzadeh","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Universit\u00e4tsklinikum K\u00f6ln, Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulf","family":"M\u00fcller-Ladner","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Clinical Immunology, Kerckhoff Klinik, Justus-Liebig University of Giessen, Bad Nauheim, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Rednic","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Emergency County Teaching Hospital, Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Centro Hospitalar de Lisboa Central, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sander W","family":"Tas","sequence":"additional","affiliation":[{"name":"Amsterdam Rheumatology & immunology Center (ARC), Academic Medical Center, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald F","family":"Van Vollenhoven","sequence":"additional","affiliation":[{"name":"Clinical Immunology & Rheumatology, Amsterdam Rheumatology & Immunology Center, Academic Medical Center\/University of Amsterdam, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Vieira","sequence":"additional","affiliation":[{"name":"Liga Portuguesa Contra as Doen\u00e7as Reum\u00e1ticas, N\u00facleo S\u00edndrome de Sj\u00f6gren, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Bombardieri","sequence":"additional","affiliation":[{"name":"University of di Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o Eurico","family":"Fonseca","sequence":"additional","affiliation":[{"name":"Rheumatology Department Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon Academic Medical Centre, Libson, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Galetti","sequence":"additional","affiliation":[{"name":"FESCA, Federation of European Scleroderma Associations, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Universit\u00e4tsklinikum D\u00fcsseldorf, D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Ghent University Hospital, Ghent, Belgium"},{"name":"Department of Internal Medicine, Ghent University, Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Cutolo","sequence":"additional","affiliation":[{"name":"Research Laboratory and Academic Division of Clinical Rheumatology Department of Internal Medicine, IRCCS Polyclinic Hospital San Martino, University of Genoa, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Mosca","sequence":"additional","affiliation":[{"name":"Rheumatology Unit, AOU Pisana, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Fischer-Betz","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Universit\u00e4tsklinikum D\u00fcsseldorf, D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2018,10,18]]},"reference":[{"key":"2025090312095983000_4.Suppl_1.e000783.1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(72)90064-2"},{"key":"2025090312095983000_4.Suppl_1.e000783.2","unstructured":"Institute of Medicine (US) Committee to Advise the Public Health Service on Clinical Practice Guidelines . In: Field MJ , Lohr KN , eds. Clinical practice guidelines: directions for a new program. Washington (DC): National Academies Press (US), 1990."},{"key":"2025090312095983000_4.Suppl_1.e000783.3","unstructured":"Institute of Medicine (US) Committee on Standards for Developing Trustworthy Clinical Practice Guidelines . In: Graham R , Mancher M , Miller Wolman D , eds. Clinical practice guidelines we can trust. Washington (DC): National Academies Press (US), 2011."},{"key":"2025090312095983000_4.Suppl_1.e000783.4","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.090449"},{"key":"2025090312095983000_4.Suppl_1.e000783.5","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.091714"},{"key":"2025090312095983000_4.Suppl_1.e000783.6","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.091716"},{"key":"2025090312095983000_4.Suppl_1.e000783.7","doi-asserted-by":"publisher","DOI":"10.1002\/art.20836"},{"key":"2025090312095983000_4.Suppl_1.e000783.8","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01032-2015"},{"key":"2025090312095983000_4.Suppl_1.e000783.9","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2013-203863"},{"key":"2025090312095983000_4.Suppl_1.e000783.10","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1111\/1346-8138.13275","article-title":"The wound\/burn guidelines - 4: guidelines for the management of skin ulcers associated with connective tissue disease\/vasculitis","volume":"43","author":"Fujimoto","year":"2016","journal-title":"J Dermatol"},{"key":"2025090312095983000_4.Suppl_1.e000783.11","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ijcard.2016.04.158","article-title":"Cardiovascular magnetic resonance in rheumatology: current status and recommendations for use","volume":"217","author":"Mavrogeni","year":"2016","journal-title":"Int J Cardiol"},{"key":"2025090312095983000_4.Suppl_1.e000783.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.cnur.2015.03.007"},{"key":"2025090312095983000_4.Suppl_1.e000783.13","doi-asserted-by":"publisher","DOI":"10.1016\/j.rdc.2005.04.005"},{"key":"2025090312095983000_4.Suppl_1.e000783.14","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198403000-00003"},{"key":"2025090312095983000_4.Suppl_1.e000783.15","doi-asserted-by":"publisher","DOI":"10.1002\/1529-0131(199905)42:5<899::AID-ANR8>3.0.CO;2-L"},{"key":"2025090312095983000_4.Suppl_1.e000783.16","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/rheumatology\/kex016","article-title":"How to monitor safety and efficacy of biologic treatment in rare, therapy-refractory immune-mediated inflammatory diseases?","volume":"57","author":"Musters","year":"2018","journal-title":"Rheumatology"},{"key":"2025090312095983000_4.Suppl_1.e000783.17","doi-asserted-by":"publisher","DOI":"10.1016\/j.rdc.2005.04.008"}],"container-title":["RMD Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/rmdopen-2018-000783","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T19:10:12Z","timestamp":1756926612000},"score":1,"resource":{"primary":{"URL":"https:\/\/rmdopen.bmj.com\/lookup\/doi\/10.1136\/rmdopen-2018-000783"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,18]]},"references-count":17,"journal-issue":{"issue":"Suppl 1","published-online":{"date-parts":[[2018,10,18]]},"published-print":{"date-parts":[[2019,1]]}},"alternative-id":["10.1136\/rmdopen-2018-000783"],"URL":"https:\/\/doi.org\/10.1136\/rmdopen-2018-000783","relation":{},"ISSN":["2056-5933"],"issn-type":[{"value":"2056-5933","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,18]]}}}