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The enigma of mixed connective tissue disease—challenges in routine care

OBJECTIVES: As a rare and heterogeneous disease, mixed connective tissue disease (MCTD) represents a challenge. Herein, we aimed to unravel potential pitfalls including correct referral diagnosis, distinction from other connective tissue diseases (CTD) and treatment modalities. METHODS: We character...

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Autores principales: Wanzenried, Adrian, Garaiman, Alexandru, Jordan, Suzana, Distler, Oliver, Maurer, Britta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9568491/
https://www.ncbi.nlm.nih.gov/pubmed/35902486
http://dx.doi.org/10.1007/s10067-022-06286-w
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author Wanzenried, Adrian
Garaiman, Alexandru
Jordan, Suzana
Distler, Oliver
Maurer, Britta
author_facet Wanzenried, Adrian
Garaiman, Alexandru
Jordan, Suzana
Distler, Oliver
Maurer, Britta
author_sort Wanzenried, Adrian
collection PubMed
description OBJECTIVES: As a rare and heterogeneous disease, mixed connective tissue disease (MCTD) represents a challenge. Herein, we aimed to unravel potential pitfalls including correct referral diagnosis, distinction from other connective tissue diseases (CTD) and treatment modalities. METHODS: We characterised the MCTD cohort at our tertiary referral centre. All patients were evaluated for fulfilment of classification criteria of various CTDs. SLEDAI-2 K and EUSTAR-AI were used in accordance with previous research to evaluate disease activity and treatment response. RESULTS: Out of 85 patients initially referred as MCTD, only one-third (33/85, 39%) fulfilled the diagnostic MCTD criteria and the other patients had undifferentiated CTD (16/85, 19%), non-MCTD overlap syndromes (11/85, 13%) and other rheumatic diseases. In our final cohort of 33 MCTD patients, 16 (48%) also met the diagnostic criteria of systemic sclerosis, 13 (39%) these of systemic lupus erythematosus, 6 (18%) these of rheumatoid arthritis and 3 (9%) these of primary myositis. Management of MCTD required immunomodulating combination therapy in most cases (15/28, 54%), whereas monotherapy was less frequent (10/28, 36%), and only a few (3/28, 11%) remained without immune modulators until the end of the follow-up period. Treatment led to a significant decline in disease activity. CONCLUSIONS: Our study showed a high risk for misdiagnosis for patients with MCTD. As a multi-organ disease, MCTD required prolonged immunomodulating therapy to achieve remission. The establishment of an international registry with longitudinal data from observational multi-centre cohorts might represent a first step to address the many unmet needs of MCTD.
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spelling pubmed-95684912022-10-16 The enigma of mixed connective tissue disease—challenges in routine care Wanzenried, Adrian Garaiman, Alexandru Jordan, Suzana Distler, Oliver Maurer, Britta Clin Rheumatol Original Article OBJECTIVES: As a rare and heterogeneous disease, mixed connective tissue disease (MCTD) represents a challenge. Herein, we aimed to unravel potential pitfalls including correct referral diagnosis, distinction from other connective tissue diseases (CTD) and treatment modalities. METHODS: We characterised the MCTD cohort at our tertiary referral centre. All patients were evaluated for fulfilment of classification criteria of various CTDs. SLEDAI-2 K and EUSTAR-AI were used in accordance with previous research to evaluate disease activity and treatment response. RESULTS: Out of 85 patients initially referred as MCTD, only one-third (33/85, 39%) fulfilled the diagnostic MCTD criteria and the other patients had undifferentiated CTD (16/85, 19%), non-MCTD overlap syndromes (11/85, 13%) and other rheumatic diseases. In our final cohort of 33 MCTD patients, 16 (48%) also met the diagnostic criteria of systemic sclerosis, 13 (39%) these of systemic lupus erythematosus, 6 (18%) these of rheumatoid arthritis and 3 (9%) these of primary myositis. Management of MCTD required immunomodulating combination therapy in most cases (15/28, 54%), whereas monotherapy was less frequent (10/28, 36%), and only a few (3/28, 11%) remained without immune modulators until the end of the follow-up period. Treatment led to a significant decline in disease activity. CONCLUSIONS: Our study showed a high risk for misdiagnosis for patients with MCTD. As a multi-organ disease, MCTD required prolonged immunomodulating therapy to achieve remission. The establishment of an international registry with longitudinal data from observational multi-centre cohorts might represent a first step to address the many unmet needs of MCTD. Springer International Publishing 2022-07-29 2022 /pmc/articles/PMC9568491/ /pubmed/35902486 http://dx.doi.org/10.1007/s10067-022-06286-w Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Article
Wanzenried, Adrian
Garaiman, Alexandru
Jordan, Suzana
Distler, Oliver
Maurer, Britta
The enigma of mixed connective tissue disease—challenges in routine care
title The enigma of mixed connective tissue disease—challenges in routine care
title_full The enigma of mixed connective tissue disease—challenges in routine care
title_fullStr The enigma of mixed connective tissue disease—challenges in routine care
title_full_unstemmed The enigma of mixed connective tissue disease—challenges in routine care
title_short The enigma of mixed connective tissue disease—challenges in routine care
title_sort enigma of mixed connective tissue disease—challenges in routine care
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9568491/
https://www.ncbi.nlm.nih.gov/pubmed/35902486
http://dx.doi.org/10.1007/s10067-022-06286-w
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