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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2022

Open Access 01-12-2022 | Juvenile Dermatomyositis | Review

Diagnostic delay of myositis: an integrated systematic review

Authors: Tergel Namsrai, Anne Parkinson, Anita Chalmers, Christine Lowe, Matthew Cook, Christine Phillips, Jane Desborough

Published in: Orphanet Journal of Rare Diseases | Issue 1/2022

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Abstract

Background

Idiopathic inflammatory myopathies (IIM) are a heterogenous group of rare muscular autoimmune diseases characterised by skeletal muscle inflammation with possible diagnostic delay. Our aim was to review the existing evidence to identify overall diagnostic delay for IIM, factors associated with diagnostic delay, and people’s experiences of diagnostic delay.

Methods

Three databases and grey literature sources were searched. Diagnostic delay was defined as the period between the onset of symptoms and the year of first diagnosis of IIM. We pooled the mean delay using random effects inverse variance meta-analysis and performed subgroup analyses.

Results

328 titles were identified from which 27 studies were included. Overall mean diagnostic delay was 27.91 months (95% CI 15.03–40.79, I2 = 99%). Subgroup analyses revealed a difference in diagnostic delay between non-inclusion body myositis (IBM) and IBM types. There was no difference in diagnostic delay between studies in which myositis specific autoantibodies (MSA) were tested or not tested. In countries with gatekeeper health systems, where primary care clinicians authorize access to specialty care, people experienced longer periods of diagnostic delay than people with IIM in countries with non-gatekeeper systems. While studies discussed factors that may influence diagnostic delay, significant associations were not identified. No qualitative studies examining people’s experiences of diagnostic delay were identified.

Conclusion

Diagnostic delay of IIM has extensive impacts on the quality of life of people living with this disease. Understanding the experiences of people with IIM, from symptom onset to diagnosis, and factors that influence diagnostic delay is critical to inform clinical practice and training activities aimed at increasing awareness of this rare disease and expediting diagnosis.
Trial registration: PROSPERO Registration number: CRD42022307236 URL of the PROSPERO registration: https://​www.​crd.​york.​ac.​uk/​PROSPEROFILES/​307236_​PROTOCOL_​20220127.​pdf
Appendix
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Metadata
Title
Diagnostic delay of myositis: an integrated systematic review
Authors
Tergel Namsrai
Anne Parkinson
Anita Chalmers
Christine Lowe
Matthew Cook
Christine Phillips
Jane Desborough
Publication date
01-12-2022
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2022
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-022-02570-9

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