Defining anti-synthetase syndrome: a systematic literature review

Giovanni Zanframundo, Sara Faghihi-Kashani, Carlo Alberto Scirè, Francesco Bonella, Tamera J Corte, Tracy J Doyle, David Fiorentino, Miguel A Gonzalez-Gay, Marie Hudson, Masataka Kuwana, Ingrid E Lundberg, Andrew Mammen, Neil McHugh, Frederick W Miller, Carlomaurizio Monteccucco, Chester V Oddis, Jorge Rojas-Serrano, Jens Schmidt, Albert Selva-O'Callaghan, Victoria P WerthGarifallia Sakellariou, Rohit Aggarwal, Lorenzo Cavagna

Research output: Contribution to journalReview articlepeer-review

47 Citations (SciVal)

Abstract

Anti-synthetase syndrome (ASSD) is a heterogeneous autoimmune disease characterised by multi-system involvement with a wide variety of manifestations. Validated classification criteria are necessary to improve recognition and prevent misclassification, especially given the lack of reliable and standardised autoantibody testing. We systematically reviewed the literature to analyse proposed ASSD criteria, characteristics, and diagnostic performance. Methods We searched PubMed and Embase databases (01/01/1984 to 06/11/2018) and the ACR and EULAR meeting abstracts (2017-2018). Sensitivities, specificities, positive, negative likelihood ratios and risk of bias were calculated for ASSD criteria and key variables reported in the literature. We performed meta-analysis when appropriate. Results We retrieved 4,358 studies. We found 85 proposed ASSD criteria from a total of 82 studies. All but one study included anti-synthetase autoantibody (ARS) positivity in the ASSD criteria. Most studies required only one ASSD feature plus anti-ARS to define ASSD (n=64, 78%), whereas 16 studies required more than one ASSD variable plus anti-ARS. The only criteria not including anti-ARS positivity required 5 ASSD clinical features. We found limited data and wide variability in the diagnostic performance of each variable and definition proposed in the literature. Given these limitations we only meta-analysed the performance of individual muscle biopsy and clinical variables in diagnosing ASSD, which performed poorly. Conclusion The current ASSD criteria include a variety of serological, clinical, and histological features with wide variability amongst proposed definitions and the performance of these definitions has not been tested. This systematic literature review suggests the need for additional data and consensus-driven classification criteria for ASSD.

Original languageEnglish
Pages (from-to)309-319
Number of pages11
JournalClinical and Experimental Rheumatology
Volume40
Issue number2
DOIs
Publication statusPublished - 25 Feb 2022

Bibliographical note

Publisher Copyright:
© Clinical and ExpErimEntal rhEumatology 2022.

Funding

This research was supported in part by the Intramural Research Program of the NIH, National Institute of Arthritis and Musculoskeletal and Skin Diseases and National Institute of Environmental Health Sciences. Funding: This work was supported by the National Natural Science Foundation of China (NSFC): 81971532, 81971533. Competing interests: none declared.

FundersFunder number
National Institutes of Health
National Institute of Environmental Health Sciences
National Institute of Arthritis and Musculoskeletal and Skin Diseases
National Natural Science Foundation of China81971533, 81971532

    Keywords

    • Autoantibodies
    • Humans
    • Ligases
    • Syndrome
    • anti-synthetase syndrome
    • diagnosis
    • systematic literature review

    ASJC Scopus subject areas

    • Rheumatology
    • Immunology and Allergy
    • Immunology

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