Diagnostic delay of myositis: an integrated systematic review

Tergel Namsrai; Anne Parkinson; Anita Chalmers; Christine Lowe; Matthew Cook; Christine Phillips; Jane Desborough

doi:10.1186/s13023-022-02570-9

Diagnostic delay of myositis: an integrated systematic review

Orphanet J Rare Dis. 2022 Nov 21;17(1):420. doi: 10.1186/s13023-022-02570-9.

Authors

Tergel Namsrai¹, Anne Parkinson¹, Anita Chalmers^{1

2}, Christine Lowe^{1

2}, Matthew Cook³, Christine Phillips⁴, Jane Desborough⁵

Affiliations

¹ National Centre for Epidemiology and Population Health, Australian National University, Canberra, ACT, Australia.
² The Myositis Association- Australia Inc, Berry, NSW, Australia.
³ John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
⁴ School of Medicine and Psychology, Australian National University, Canberra, ACT, Australia.
⁵ National Centre for Epidemiology and Population Health, Australian National University, Canberra, ACT, Australia. jane.desborough@anu.edu.au.

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.

Keywords: Diagnostic delay; Idiopathic inflammatory myositis; Meta-analysis; Myositis; Systematic review.

Publication types

Review
Systematic Review
Research Support, Non-U.S. Gov't

MeSH terms

Autoantibodies
Delayed Diagnosis
Humans
Myositis* / diagnosis
Myositis, Inclusion Body* / diagnosis
Quality of Life

Substances

Autoantibodies