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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 characteris...
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| Published in: | Clinical rheumatology 2022-11, Vol.41 (11), p.3503-3511 |
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| creator | Wanzenried, Adrian Garaiman, Alexandru Jordan, Suzana Distler, Oliver Maurer, Britta |
| 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.
Key Points
• This cohort study aimed to identify challenges in the highly complex management of MCTD.
• Clinical presentation of MCTD significantly overlaps with that of other CTDs, leading to a high risk of misdiagnosis.
• Manifestations of MCTD are highly variable and potentially life-threatening, requiring continued immunomodulating treatment in most cases.
• A composite score based on SLEDAI-2 K and EUSTAR-AI measures could represent an easy applicable tool to monitor disease activity and treatment response. |
| doi_str_mv | 10.1007/s10067-022-06286-w |
| format | article |
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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.
Key Points
• This cohort study aimed to identify challenges in the highly complex management of MCTD.
• Clinical presentation of MCTD significantly overlaps with that of other CTDs, leading to a high risk of misdiagnosis.
• Manifestations of MCTD are highly variable and potentially life-threatening, requiring continued immunomodulating treatment in most cases.
• A composite score based on SLEDAI-2 K and EUSTAR-AI measures could represent an easy applicable tool to monitor disease activity and treatment response.</description><identifier>ISSN: 0770-3198</identifier><identifier>ISSN: 1434-9949</identifier><identifier>EISSN: 1434-9949</identifier><identifier>DOI: 10.1007/s10067-022-06286-w</identifier><identifier>PMID: 35902486</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Connective tissue diseases ; Immunomodulation ; Medicine ; Medicine & Public Health ; Mixed connective tissue disease ; Myositis ; Original ; Original Article ; Patients ; Remission ; Rheumatoid arthritis ; Rheumatology ; Scleroderma ; Systemic lupus erythematosus ; Systemic sclerosis</subject><ispartof>Clinical rheumatology, 2022-11, Vol.41 (11), p.3503-3511</ispartof><rights>The Author(s) 2022</rights><rights>The Author(s) 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2022. The Author(s).</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c451t-2f4bc47f5829e06b059103e1b0f40697a3dde4976e57825cfbd9ac065bea481f3</citedby><cites>FETCH-LOGICAL-c451t-2f4bc47f5829e06b059103e1b0f40697a3dde4976e57825cfbd9ac065bea481f3</cites><orcidid>0000-0002-3962-8124</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,315,786,790,891,27957,27958</link.rule.ids></links><search><creatorcontrib>Wanzenried, Adrian</creatorcontrib><creatorcontrib>Garaiman, Alexandru</creatorcontrib><creatorcontrib>Jordan, Suzana</creatorcontrib><creatorcontrib>Distler, Oliver</creatorcontrib><creatorcontrib>Maurer, Britta</creatorcontrib><title>The enigma of mixed connective tissue disease—challenges in routine care</title><title>Clinical rheumatology</title><addtitle>Clin Rheumatol</addtitle><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.
Key Points
• This cohort study aimed to identify challenges in the highly complex management of MCTD.
• Clinical presentation of MCTD significantly overlaps with that of other CTDs, leading to a high risk of misdiagnosis.
• Manifestations of MCTD are highly variable and potentially life-threatening, requiring continued immunomodulating treatment in most cases.
• A composite score based on SLEDAI-2 K and EUSTAR-AI measures could represent an easy applicable tool to monitor disease activity and treatment response.</description><subject>Connective tissue diseases</subject><subject>Immunomodulation</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mixed connective tissue disease</subject><subject>Myositis</subject><subject>Original</subject><subject>Original Article</subject><subject>Patients</subject><subject>Remission</subject><subject>Rheumatoid arthritis</subject><subject>Rheumatology</subject><subject>Scleroderma</subject><subject>Systemic lupus erythematosus</subject><subject>Systemic sclerosis</subject><issn>0770-3198</issn><issn>1434-9949</issn><issn>1434-9949</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><recordid>eNp9kb1uFTEQhS0EIpfAC1BZoqFZGHv92yChiF9Fogm15fXO3uto1w72bgIdD8ET8iQYbgSCgmammO8czcwh5DGDZwxAP6-tKt0B5x0oblR3c4fsmOhFZ62wd8kOtIauZ9ackAe1XgIAN5bdJye9tMCFUTvy_uKAFFPcL57miS7xM4405JQwrPEa6Rpr3ZCOsaKv-P3rt3Dw84xpj5XGREve1piQBl_wIbk3-bnio9t-Sj6-fnVx9rY7__Dm3dnL8y4IydaOT2IIQk_ScIugBpCWQY9sgEmAstr344jCaoVSGy7DNIzWB1ByQC8Mm_pT8uLoe7UNC44B01r87K5KXHz54rKP7u9Jige3z9fOSmWEZc3g6a1ByZ82rKtbYg04zz5h3qrjyiqjhDS6oU_-QS_zVlI7z3HNhda8PbJR_EiFkmstOP1ehoH7GZU7RuVaVO5XVO6mifqjqDa4_bP8sf6P6gcw9pdu</recordid><startdate>20221101</startdate><enddate>20221101</enddate><creator>Wanzenried, Adrian</creator><creator>Garaiman, Alexandru</creator><creator>Jordan, Suzana</creator><creator>Distler, Oliver</creator><creator>Maurer, Britta</creator><general>Springer International Publishing</general><general>Springer Nature B.V</general><scope>C6C</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-3962-8124</orcidid></search><sort><creationdate>20221101</creationdate><title>The enigma of mixed connective tissue disease—challenges in routine care</title><author>Wanzenried, Adrian ; Garaiman, Alexandru ; Jordan, Suzana ; Distler, Oliver ; Maurer, Britta</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c451t-2f4bc47f5829e06b059103e1b0f40697a3dde4976e57825cfbd9ac065bea481f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Connective tissue diseases</topic><topic>Immunomodulation</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mixed connective tissue disease</topic><topic>Myositis</topic><topic>Original</topic><topic>Original Article</topic><topic>Patients</topic><topic>Remission</topic><topic>Rheumatoid arthritis</topic><topic>Rheumatology</topic><topic>Scleroderma</topic><topic>Systemic lupus erythematosus</topic><topic>Systemic sclerosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wanzenried, Adrian</creatorcontrib><creatorcontrib>Garaiman, Alexandru</creatorcontrib><creatorcontrib>Jordan, Suzana</creatorcontrib><creatorcontrib>Distler, Oliver</creatorcontrib><creatorcontrib>Maurer, Britta</creatorcontrib><collection>SpringerOpen</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Clinical rheumatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wanzenried, Adrian</au><au>Garaiman, Alexandru</au><au>Jordan, Suzana</au><au>Distler, Oliver</au><au>Maurer, Britta</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The enigma of mixed connective tissue disease—challenges in routine care</atitle><jtitle>Clinical rheumatology</jtitle><stitle>Clin Rheumatol</stitle><date>2022-11-01</date><risdate>2022</risdate><volume>41</volume><issue>11</issue><spage>3503</spage><epage>3511</epage><pages>3503-3511</pages><issn>0770-3198</issn><issn>1434-9949</issn><eissn>1434-9949</eissn><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>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.
Key Points
• This cohort study aimed to identify challenges in the highly complex management of MCTD.
• Clinical presentation of MCTD significantly overlaps with that of other CTDs, leading to a high risk of misdiagnosis.
• Manifestations of MCTD are highly variable and potentially life-threatening, requiring continued immunomodulating treatment in most cases.
• A composite score based on SLEDAI-2 K and EUSTAR-AI measures could represent an easy applicable tool to monitor disease activity and treatment response.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>35902486</pmid><doi>10.1007/s10067-022-06286-w</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0002-3962-8124</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Connective tissue diseases Immunomodulation Medicine Medicine & Public Health Mixed connective tissue disease Myositis Original Original Article Patients Remission Rheumatoid arthritis Rheumatology Scleroderma Systemic lupus erythematosus Systemic sclerosis |
| title | The enigma of mixed connective tissue disease—challenges in routine care |
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