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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Bibliographic Details
Published in:Clinical rheumatology 2022-11, Vol.41 (11), p.3503-3511
Main Authors: Wanzenried, Adrian, Garaiman, Alexandru, Jordan, Suzana, Distler, Oliver, Maurer, Britta
Format: Article
Language:English
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
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Summary: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.
ISSN:0770-3198
1434-9949
1434-9949
DOI:10.1007/s10067-022-06286-w