Myositis Autoantibodies
Autoantibodies
Idiopathic inflammatory myopathies (IIMs) are associated with autoantibodies against nuclear and cytoplasmic antigens. Myositis-specific autoantibodies (MSAs) are specific to patients with IIMs. Myositis-associated autoantibodies (MAAs) can also occur in dermatomyositis but is commonly seen in overlap with another connective tissue disease, such as systemic sclerosis. The immunoprecipitation assay is the gold standard for detection of MSAs, which is not widely available and has limited practical use.
MSAs are detected in more than 60% of patients with DM. Most patients with Dermatomyositis (DM) only have one MSA, and only approximately 20% of patients with DM have a known MSA.
Prevalent myositis specific autoantibodies (MSAs) in DM include anti-Mi2, anti-nuclear matrix protein 2 (anti-NXP2), anti-transcriptional intermediary factor-1 gamma (anti-TIF1-γ), and anti-melanoma differentiation-associated gene 5 (anti- MDA5) (Table 2-2).
Eight anti-aminoacyl-transfer…
To continue reading
Log in or register to continue reading. It's free!
OR
By signing up to create an account, I accept Healio's Terms of Use and Privacy Policy.
Autoantibodies
Idiopathic inflammatory myopathies (IIMs) are associated with autoantibodies against nuclear and cytoplasmic antigens. Myositis-specific autoantibodies (MSAs) are specific to patients with IIMs. Myositis-associated autoantibodies (MAAs) can also occur in dermatomyositis but is commonly seen in overlap with another connective tissue disease, such as systemic sclerosis. The immunoprecipitation assay is the gold standard for detection of MSAs, which is not widely available and has limited practical use.
MSAs are detected in more than 60% of patients with DM. Most patients with Dermatomyositis (DM) only have one MSA, and only approximately 20% of patients with DM have a known MSA.
Prevalent myositis specific autoantibodies (MSAs) in DM include anti-Mi2, anti-nuclear matrix protein 2 (anti-NXP2), anti-transcriptional intermediary factor-1 gamma (anti-TIF1-γ), and anti-melanoma differentiation-associated gene 5 (anti- MDA5) (Table 2-2).
Eight anti-aminoacyl-transfer RNA synthetase (ASyS) antibodies (anti-Jo-1, anti-OJ, anti-EJ, anti-KS, anti Zo, anti-Ha/YRS, anti-PL-12, and anti-PL-1) have been associated with the anti-synthetase syndrome. The clinical presentation of anti-synthetase syndrome is heterogeneous and varies by anti-ARS antibody.
MSAs are associated with characteristic clinical features and can alert physicians to potentially associated systemic manifestations (Table 2-3). MSAs can be used as biomarkers for specific DM phenotypes and enable categorization and stratification of patients into subgroups with consistent clinical phenotypes.
Patients suspected of having DM should be screened for MAAs, including ANA and anti-extractable nuclear antigen (ENA) antibodies such as anti-SSA (Ro). Testing for MSA is not standardized, and commercially available tests use variable methodologies.
References
- Aggarwal, R., Schessl, J., Charles-Schoeman, C. et al. Safety and tolerability of intravenous immunoglobulin in patients with active dermatomyositis: results from the randomised, placebo-controlled ProDERM study. Arthritis Res Ther 26, 27 (2024).
- ArgenX Press Release. Argenx Advances Clinical Development of Efgartigimod SC in Idiopathic Inflammatory Myopathies. November 20, 2024. https://argenx.com/content/dam/argenx-corp/newsroom/press-release-pdfs/PressRelease_argenx_ALKIVIA_Ph2_20241120.pdf.coredownload.inline.pdf
- Bax CE, Maddukuri S, Ravishankar A, Pappas-Taffer L, Werth VP. Environmental triggers of dermatomyositis: a narrative review. Ann Transl Med. 2021 Mar;9(5):434. doi: 10.21037/atm-20-3719. PMID: 33842655; PMCID: PMC8033368.
- Bottai M, Tjärnlund A, Santoni G, Werth VP, Pilkington C, de Visser M, Alfredsson L, Amato AA, Barohn RJ, Liang MH, Singh JA, Aggarwal R, Arnardottir S, Chinoy H, Cooper RG, Danko K, Dimachkie MM, Feldman BM, García-De La Torre I, Gordon P, Hayashi T, Katz JD, Kohsaka H, Lachenbruch PA, Lang BA, Li Y, Oddis CV, Olesinka M, Reed AM, Rutkowska-Sak L, Sanner H, Selva-O'Callaghan A, Wook Song Y, Vencovsky J, Ytterberg SR, Miller FW, Rider LG, Lundberg IE; International Myositis Classification Criteria Project consortium, the Euromyositis register and the Juvenile Dermatomyositis Cohort Biomarker Study and Repository (JDRG) (UK and Ireland). EULAR/ACR classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups: a methodology report. RMD Open. 2017 Nov 14;3(2):e000507. doi: 10.1136/rmdopen-2017-000507. PMID: 29177080; PMCID: PMC5687535.
- Caravan S, Lopez CM, Yeh JE. Causes and Clinical Presentation of Drug-Induced Dermatomyositis: A Systematic Review. JAMA Dermatol. 2024;160(2):210–217. doi:10.1001/jamadermatol.2023.5418
- Cassard L, Seraly N, Riegert M, Patel A, Fernandez AP. Dermatomyositis: Practical Guidance and Unmet Needs. Immunotargets Ther. 2024;13:151-172.
- Chandra T, Aggarwal R. A Narrative Review of Acthar Gel for the Treatment of Myositis. Rheumatol Ther. 2023 Jun;10(3):523-537. doi: 10.1007/s40744-023-00545-1. Epub 2023 Mar 26. PMID: 36966453; PMCID: PMC10140234.
- Chung MP, Paik JJ. Past, Present, and Future in Dermatomyositis Therapeutics. Curr Treatm Opt Rheumatol. 2022 Dec;8(4):71-90. doi: 10.1007/s40674-022-00193-6. Epub 2022 Jul 26. PMID: 38650607; PMCID: PMC11034924.
- Cobos GA, Femia A, Vleugels RA. Dermatomyositis: An Update on Diagnosis and Treatment. Am J Clin Dermatol. 2020 Jun;21(3):339-353. doi: 10.1007/s40257-020-00502-6. PMID: 32096127.
- Connolly CM, Gupta L, Fujimoto M, Machado PM, Paik JJ. Idiopathic inflammatory myopathies: current insights and future frontiers. Lancet Rheumatol. 2024 Feb;6(2):e115-e127. doi: 10.1016/S2665-9913(23)00322-3. PMID: 38267098.
- Connolly CM, Paik JJ. Clinical pearls and promising therapies in myositis. Expert Rev Clin Immunol. 2023 Jul-Dec;19(7):797-811. doi: 10.1080/1744666X.2023.2212162. Epub 2023 May 18. PMID: 37158055; PMCID: PMC10330909.
- Demortier J, Vautier M, Chosidow O, Gallay L, Bessis D, Berezne A, Cordel N, Schmidt J, Smail A, Duffau P, Jachiet M, Begon E, Gottlieb J, Chasset F, Graveleau J, Marque M, Cesbron E, Forestier A, Josse S, Kluger N, Beauchêne C, Le Corre Y, Pagis V, Rigolet A, Guillaume-Jugnot P, Authier FJ, Guilain N, Streichenberger N, Leonard-Louis S, Boussouar S, Landon-Cardinal O, Benveniste O, Allenbach Y. Anti-SAE autoantibody in dermatomyositis: original comparative study and review of the literature. Rheumatology (Oxford). 2023 Dec 1;62(12):3932-3939. doi: 10.1093/rheumatology/kead154. PMID: 37010495.
- Fiorentino D, Mangold AR, Werth VP, Christopher-Stine L, Femia A, Chu M, Musiek ACM, Sluzevich JC, Graham LV, Fernandez AP, Aggarwal R, Rieger K, Page KM, Li X, Hyde C, Rath N, Sloan A, Oemar B, Banerjee A, Salganik M, Banfield C, Neelakantan S, Beebe JS, Vincent MS, Peeva E, Vleugels RA. Efficacy, safety, and target engagement of dazukibart, an IFNβ specific monoclonal antibody, in adults with dermatomyositis: a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial. Lancet. 2025 Jan 11;405(10473):137-146. doi: 10.1016/S0140-6736(24)02071-3. PMID: 39798982.
- Kronzer, V. L., Kimbrough, B. A., Crowson, C. S., Davis, J. M., Holmqvist, M., & Ernste, F. C. (2023). Incidence, Prevalence, and Mortality of Dermatomyositis: A Population-Based Cohort Study. Arthritis Care and Research, 75(2), 348-355.
- Lim D, Fiorentino D, Werth V. Current concepts and advances in dermatomyositis: a dermatological perspective. Clin Exp Rheumatol. 2023 Mar;41(2):359-369. doi: 10.55563/clinexprheumatol/ue71ku. Epub 2023 Jan 3. PMID: 36622138.
- Oldroyd, A.G.S., Callen, J.P., Chinoy, H. et al. International Guideline for Idiopathic Inflammatory Myopathy-Associated Cancer Screening: an International Myositis Assessment and Clinical Studies Group (IMACS) initiative. Nat Rev Rheumatol 19, 805–817 (2023). https://doi.org/10.1038/s41584-023-01045-w.
- Oldroyd AGS, Lilleker JB, Amin T, Aragon O, Bechman K, Cuthbert V, Galloway J, Gordon P, Gregory WJ, Gunawardena H, Hanna MG, Isenberg D, Jackman J, Kiely PDW, Livermore P, Machado PM, Maillard S, McHugh N, Murphy R, Pilkington C, Prabu A, Rushe P, Spinty S, Swan J, Tahir H, Tansley SL, Truepenny P, Truepenny Y, Warrier K, Yates M, Papadopoulou C, Martin N, McCann L, Chinoy H; British Society for Rheumatology Standards, Audit and Guidelines Working Group. British Society for Rheumatology guideline on management of paediatric, adolescent and adult patients with idiopathic inflammatory myopathy. Rheumatology (Oxford). 2022 May 5;61(5):1760-1768. doi: 10.1093/rheumatology/keac115. PMID: 35355064; PMCID: PMC9398208.
- Paik JJ, Lubin G, Gromatzky A, Mudd PN Jr, Ponda MP, Christopher-Stine L. Use of Janus kinase inhibitors in dermatomyositis: a systematic literature review. Clin Exp Rheumatol. 2023 Mar;41(2):348-358. doi: 10.55563/clinexprheumatol/hxin6o. Epub 2022 Jun 28. PMID: 35766013; PMCID: PMC10105327.
- Patil A, Lu J, Kassir M, Babaei M, Goldust M. Adult and juvenile dermatomyositis treatment. J Cosmet Dermatol. 2023 Feb;22(2):395-401. doi: 10.1111/jocd.15363. Epub 2022 Sep 16. PMID: 36065712.
- Qudsiya Z, Waseem M. Dermatomyositis. [Updated 2023 Aug 7]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
- Sevim E, Kobrin D, Casal-Dominguez M, Pinal-Fernandez I. A comprehensive review of dermatomyositis treatments - from rediscovered classics to promising horizons. Expert Rev Clin Immunol. 2024 Feb;20(2):197-209. doi: 10.1080/1744666X.2023.2270737. Epub 2024 Jan 21. PMID: 37842905; PMCID: PMC11611049.
- Valenzuela A, Chung L, Casciola-Rosen L, Fiorentino D. Identification of clinical features and autoantibodies associated with calcinosis in dermatomyositis. JAMA Dermatol. 2014 Jul;150(7):724-9. doi: 10.1001/jamadermatol.2013.10416. PMID: 24869801; PMCID: PMC4351704.
- Wolstencroft PW, Casciola-Rosen L, Fiorentino DF. Association Between Autoantibody Phenotype and Cutaneous Adverse Reactions to Hydroxychloroquine in Dermatomyositis. JAMA Dermatol. 2018 Oct 1;154(10):1199-1203. doi: 10.1001/jamadermatol.2018.2549. PMID: 30140893; PMCID: PMC6233745.
- Zhao X, Si S. Five genes as diagnostic biomarkers of dermatomyositis and their correlation with immune cell infiltration. Front Immunol. 2023 Jan 18;14:1053099. doi: 10.3389/fimmu.2023.1053099. PMID: 36742332; PMCID: PMC9889851.
