Wanzenried, Adrian; Garaiman, Alexandru; Jordan, Suzana; Distler, Oliver; Maurer, Britta (2022). The enigma of mixed connective tissue disease-challenges in routine care. Clinical rheumatology, 41(11), pp. 3503-3511. Springer 10.1007/s10067-022-06286-w
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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.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Dermatology, Urology, Rheumatology, Nephrology, Osteoporosis (DURN) > Clinic of Rheumatology and Immunology |
UniBE Contributor: |
Maurer, Britta |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1434-9949 |
Publisher: |
Springer |
Language: |
English |
Submitter: |
Anja Ebeling |
Date Deposited: |
12 Jan 2023 15:25 |
Last Modified: |
13 Jan 2023 06:13 |
Publisher DOI: |
10.1007/s10067-022-06286-w |
PubMed ID: |
35902486 |
Uncontrolled Keywords: |
Diagnosis Disease activity Mixed connective tissue disease Treatment |
BORIS DOI: |
10.48350/177321 |
URI: |
https://boris.unibe.ch/id/eprint/177321 |
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