Clinical and therapeutic features of myositis associated with anti-MDA5 antibodies: three new cases

1 Gunawardena H, Betteridge ZE, McHugh NE. Myositis-specific autoantibodies: their clinical and pathogenic significance in disease expression. Rheumatology. 2009;48(6): 607–612. Search in Google Scholar

2 Sato, S. Clinical and immunological associations of autoantibodies to the 140kDa polypeptide (the US autoantigen) in patients with clinically amyopathic dermatomyositis. Arthritis and Rheumatology. 2003;48(9): 102. Search in Google Scholar

3 Damoiseaux J, Vulsteke J, Tseng C, Platteel ACM, Piette Y, Shovman O, et al. Autoantibodies in idiopathic inflammatory myopathies : clinical associations and laboratory evaluation by mono- and multispecific immunoassays. Autoimmunity Reviews. 2019;18(3): 293–305. doi:10.1016/j.autrev.2018.10.004. Search in Google Scholar

4 Bohan A, Peter JB. Polymyositis and dermatomyositis. The New England Journal of Medicine. 1975;292: 344–347. Search in Google Scholar

5 Borges IBP, Silva MG, Shinjo SK. Prevalence and reactivity of anti-melanoma differentiation-associated gene 5 (anti-MDA-5) autoantibody in Brazilian patients with dermatomyositis*. Anais Brasileiros de Dermatologia. 2018;93(4): 517–523. Search in Google Scholar

6 Fiorentino D, Chung L, Zwerner J, Rosen A, Casciola-Rosen L. The mucocutaneous and systemic phenotype of dermatomyositis patients with antibodies to MDA5 (CADM-140): a retrospective study. Journal of the American Academy of Dermatology. 2011;65(1): 25–34. doi:10.1016/j.jaad.2010.09.016. Search in Google Scholar

7 Kurtzman DJB, Vleugels RA. Anti-melanoma differentiation-associated gene 5 (MDA5) dermatomyositis: a concise review with an emphasis on distinctive clinical features. Journal of the American Academy of Dermatology. 2018;78(4): 776–785. doi:10.1016/j.jaad.2017.12.010. Search in Google Scholar

8 Girard C, Vincent T, Bessis D. Dermatomyosite et pneumopathie interstitielle rapidement évolutive associées aux auto- anticorps anti-MDA-5 : une présentation clinique atypique. Annales de Dermatologie et de Vénéréologie. 2013;140(10): 628–634. doi:10.1016/j.annder.2013.04.083. Search in Google Scholar

9 Chen Z, Cao M, Plana MN, Liang J, Cai H, Kuwana M, et al. Utility of anti-melanoma differentiation-associated gene 5 antibody measurement in identifying patients with dermatomyositis and a high risk for developing rapidly progressive interstitial lung disease: a review of the literature and a meta-analysis. Arthritis Care and Research (Hoboken). 2013;65(8): 1316–1324. Search in Google Scholar

10 Koga T, Fujikawa K, Horai Y, Okada A, Kawashiri SY, Iwamoto N, et al. The diagnostic utility of anti-melanoma differentiation-associated gene 5 antibody testing for predicting the prognosis of Japanese patients with DM. Rheumatology (Oxford). 2012;51(7): 1278–1284. Search in Google Scholar

11 Cao H, Pan M, Kang Y, Xia Q, Li X, Zhao X, et al. Clinical manifestations of dermatomyositis and clinically amyopathic dermatomyositis patients with positive expression of anti-melanoma differentiation-associated gene 5 antibody. Arthritis Care and Research (Hoboken). 2012;64(10): 1602–1610. Search in Google Scholar

12 Nakashima R, Imura Y, Kobayashi S, Yukawa N, Yoshifuji H, Nojima T, et al. The RIG-I-like receptor IFIH1/MDA5 is a dermatomyositis-specific autoantigen identified by the anti-CADM-140 antibody. Rheumatology (Oxford). 2010;49(3): 433–440. Search in Google Scholar

13 Hall JC, Casciola-Rosen L, Samedy LA, Werner J, Owoyemi K, Danoff SK, et al. Anti-melanoma differentiation-associated protein 5-associated dermatomyositis: expanding the clinical spectrum. Arthritis Care and Research (Hoboken). 2013;65(8): 1307–1315. Search in Google Scholar

14 Ceribelli A, Fredi M, Taraborelli M, Cavazzana I, Tincani A, Selmi C, et al. Prevalence and clinical significance of anti-MDA5 antibodies in European patients with polymyositis/dermatomyositis. Clinical and Experimental Rheumatology. 2014;32(6): 891–897. Search in Google Scholar

15 Moghadam-Kia S, Oddis CV, Sato S, Kuwana M, Aggarwal R. Anti-melanoma differentiation-associated gene 5 is associated with rapidly progressive lung disease and poor survival in US patients with amyopathic and myopathic dermatomyositis. Arthritis Care and Research (Hoboken). 2016;68(5): 689–694. Search in Google Scholar

16 Gil B, Merav L, Pnina L, Chagai G. Diagnosis and treatment of clinically amyopathic dermatomyositis (CADM): a case series and literature review. Clinical Rheumatology. 2016;35: 2125–2130. Search in Google Scholar

17 Sato S, Hoshino K, Satoh T, Fujita T, Kawakami Y, Fujita T, et al. RNA helicase encoded by melanoma differentiation-associated gene 5 is a major autoantigen in patients with clinically amyopathic dermatomyositis: association with rapidly progressive interstitial lung disease. Arthritis and Rheumatism. 2009;60: 2193–2200. Search in Google Scholar

18 Tanizawa K, Handa T, Nakashima R, Kubo T, Hosono Y, Watanabe K, et al. HRCT features of interstitial lung disease in dermatomyositis with anti-CADM-140 antibody. Respiratory Medicine. 2011;105(9): 1380–1387. doi:10.1016/j. rmed.2011.05.006. Search in Google Scholar

19 Gerfaud-valentin M, Ahmad K, Piegay F, Fabien N, Raphanel B, Cordier JF, et al. Pneumopathie infiltrante diffuse associée à une dermatomyosite amyopathique avec auto-anticorps anti-MDA5. Revue des Maladies Respiratoires. 2014;31(9): 849–853. doi:10.1016/j.rmr.2014.02.010. Search in Google Scholar

20 Ma X, Chen Z, Hu W, Guo Z, Wang Y, Kuwana M, et al. Clinical and serological features of patients with dermatomyositis complicated by spontaneous pneumomediastinum. Clinical Rheumatology. 2016;35(2): 489–493. Search in Google Scholar

21 Waldman R, DeWane ME, Lu J. Dermatomyositis part 2: diagnosis and treatment. Journal of the American Academy of Dermatology. 2019;82(2): 283–296. Search in Google Scholar

22 Yamaguchi K, Yamaguchi A, Onuki Y, Itai M, Kashiwagi C, Takehara K, et al. Clinical features of dermatomyositis associated with anti-MDA-5 antibodies by age. Modern Rheumatology. 2020;31(1): 177–185. doi:10.1080/14397595.2020.1740400. Search in Google Scholar

23 Sontheimer RD. MDA5 autoantibody — another indicator of clinical diversity in dermatomyositis. Annals of Translational Medicine. 2017;5(7): 160. Search in Google Scholar

24 Yashiro M, Asano T, Sato S, Kobayashi H, Watanabe H, Miyata M, et al. Anti- MDA5 antibody- positive hypomyopathic dermatomyositis complicated with pneumomediastinum. Fukushima Journal of Medical Science. 2018;64(2): 89–94. Search in Google Scholar

25 Mukae H, Ishimoto H, Sakamoto N, Hara S, Kakugawa T, Nakayama S, et al. Clinical differences between interstitial lung disease associated with clinically amyopathic dermatomyositis and classic dermatomyositis. Chest. 2009;136: 1341–1347. Search in Google Scholar

26 McPherson M, Economidou S, Liampas A, Zis P, Parperis K. Management of MDA-5 antibody positive clinically amyopathic dermatomyositis associated interstitial lung disease: a systematic review. Seminars in Arthritis and Rheumatism. 2022;53: 151959. Search in Google Scholar

27 Romero-Bueno F, Diaz Del Campo P, Trallero-Araguás E, Ruiz-Rodríguez JC, Castellvi I, Rodriguez-Nieto MJ, et al. Recommendations for the treatment of anti-melanoma differentiation-associated gene 5-positive dermatomyositis-associated rapidly progressive interstitial lung disease. Seminars in Arthritis and Rheumatism. 2020;50(4): 776–790. Search in Google Scholar

28 So H, Wong VTL, Lao VWN, Pang HT, Yip RML. Rituximab for refractory rapidly progressive interstitial lung disease related to anti-MDA5 antibody-positive amyopathic dermatomyositis. Clinical Rheumatology. 2018;37(7): 1983–1989. Search in Google Scholar

29 Gono T, Sato S, Kawaguchi Y, Kuwana M, Hanaoka M, Katsumata Y, et al. Anti-MDA5 antibody, ferritin and IL-18 are useful for the evaluation of response to treatment in interstitial lung disease with anti-MDA5 antibody-positive dermatomyositis. Rheumatology (Oxford). 2012;51(9): 1563–1570. Search in Google Scholar

30 Gono T, Kawaguchi Y, Satoh T, Kuwana M, Katsumata Y, Takagi K, et al. Clinical manifestation and prognostic factor in anti- melanoma differentiation- associated gene 5 antibody-associated interstitial lung disease as a complication of dermatomyositis. Rheumatology Oxford). 2010;49(9): 1713–1719. Search in Google Scholar

31 Huang K, Vinik O, Shojania K, Yeung J, Shupak R, Nimmo M, et al. Clinical spectrum and therapeutics in Canadian patients with anti-melanoma differentiation-associated gene 5 (MDA5)-positive dermatomyositis: a case-based review. Rheumatology International. 2019;39(11): 1971–1981. doi:10.1007/s00296-019-04398-2. Search in Google Scholar

32 Labrador-Horrillo M, Martinez MA, Selva-O’Callaghan A, Trallero-Araguas E, Balada E, Vilardell-Tarres M, et al. Anti-MDA5 antibodies in a large Mediterranean population of adults with dermatomyositis. Journal of Immunology Research. 2014;2014: 290797. Search in Google Scholar