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Original Articles

Describing and expanding the clinical phenotype of anti-MDA5-associated rapidly progressive interstitial lung disease: case series of nine Canadian patients and literature review

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Pages 210-224 | Accepted 22 May 2017, Published online: 25 Oct 2017

References

  • 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. Clin Exp Rheumatol 2014;32:891–7.
  • Chen F, Wang D, Shu X, Nakashima R, Wang G. Anti-MDA5 antibody is associated with A/SIP and decreased T cells in peripheral blood and predicts poor prognosis of ILD in Chinese patients with dermatomyositis. Rheumatol Int 2012;32:3909–15.
  • 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. J Am Acad Dermatol 2011;65:25–34.
  • 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;49:1713–19.
  • 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 Res 2013;65:1307–15.
  • Hamaguchi Y, Kuwana M, Hoshino K, Hasegawa M, Kaji K, Matsushita T, et al. Clinical correlations with dermatomyositis-specific autoantibodies in adult Japanese patients with dermatomyositis: a multicenter cross-sectional study. Arch Dermatol 2011;147:391–8.
  • Hoshino K, Muro Y, Sugiura K, Tomita Y, Nakashima R, Mimori T. Anti-MDA5 and anti-TIF1-gamma antibodies have clinical significance for patients with dermatomyositis. Rheumatology (Oxford) 2010;49:1726–33.
  • Ikeda N, Takahashi K, Yamaguchi Y, Inasaka M, Kuwana M, Ikezawa Z. Analysis of dermatomyositis-specific autoantibodies and clinical characteristics in Japanese patients. J Dermatol 2011;38:973–9.
  • Kang EH, Nakashima R, Mimori T, Kim J, Lee YJ, Lee EB, et al. Myositis autoantibodies in Korean patients with inflammatory myositis: anti-140-kDa polypeptide antibody is primarily associated with rapidly progressive interstitial lung disease independent of clinically amyopathic dermatomyositis. BMC Musculoskelet Disord 2010;11:223.
  • 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;51:1278–84.
  • Muro Y, Sugiura K, Akiyama M. Limitations of a single-point evaluation of anti-MDA5 antibody, ferritin, and IL-18 in predicting the prognosis of interstitial lung disease with anti-MDA5 antibody-positive dermatomyositis. Clin Rheumatol 2013;32:395–8.
  • Muro Y, Sugiura K, Hoshino K, Akiyama M, Tamakoshi K. Epidemiologic study of clinically amyopathic dermatomyositis and anti-melanoma differentiation-associated gene 5 antibodies in central Japan. Arthritis Res Ther 2011;13:R214.
  • 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;49:433–40.
  • Sato S, Kuwana M, Fujita T, Suzuki Y. Anti-CADM-140/MDA5 autoantibody titer correlates with disease activity and predicts disease outcome in patients with dermatomyositis and rapidly progressive interstitial lung disease. Mod Rheumatol 2013;23:496–502.
  • Cavazzana I, Fredi M, Ceribelli A, Mordenti C, Ferrari F, Carabellese N, et al. Testing for myositis specific autoantibodies: comparison between line blot and immunoprecipitation assays in 57 myositis sera. J Immunol Methods 2016;433:1–5.
  • Sato S, Murakami A, Kuwajima A, Takehara K, Mimori T, Kawakami A, et al. Clinical utility of an enzyme-linked immunosorbent assay for detecting anti-melanoma differentiation-associated gene 5 autoantibodies. PLoS One 2016;11:e0154285.
  • Sato S, Hirakata M, Kuwana M, Suwa A, Inada S, Mimori T, et al. Autoantibodies to a 140-kd polypeptide, CADM-140, in Japanese patients with clinically amyopathic dermatomyositis. Arthritis Rheum 2005;52:1571–6.
  • 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 Rheum 2009;60:2193–200.
  • 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 Res 2012;64:1602–10.
  • 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 Res 2013;65:1316–24.
  • Fujikawa K, Kawakami A, Kaji K, Fujimoto M, Kawashiri S, Iwamoto N, et al. Association of distinct clinical subsets with myositis-specific autoantibodies towards anti-155/140-kDa polypeptides, anti-140-kDa polypeptides, and anti-aminoacyl tRNA synthetases in Japanese patients with dermatomyositis: a single-centre, cross-sectional study. Scand J Rheumatol 2009;38:263–7.
  • 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;51:1563–70.
  • Horai Y, Koga T, Fujikawa K, Takatani A, Nishino A, Nakashima Y, et al. Serum interferon-alpha is a useful biomarker in patients with anti-melanoma differentiation-associated gene 5 (MDA5) antibody-positive dermatomyositis. Mod Rheumatol 2015;25:85–9.
  • Ikeda S, Arita M, Morita M, Ikeo S, Ito A, Tokioka F, et al. Interstitial lung disease in clinically amyopathic dermatomyositis with and without anti-MDA-5 antibody: to lump or split? BMC Pulm Med 2015;15:159.
  • Kang EH, Kuwana M, Okazaki Y, Lee EY, Lee YJ, Lee EB, et al. Comparison of radioimmunoprecipitation versus antigen-specific assays for identification of myositis-specific autoantibodies in dermatomyositis patients. Mod Rheumatol 2014;24:945–8.
  • Nagata K, Tomii K, Nanjo S, Kubota M, Tachikawa R, Nishio M. [Four cases of interstitial pneumonia associated with amyopathic dermatomyositis characterized by the anti-CADM-140 antibody], in Japanese. Nihon Kokyuki Gakkai Zasshi 2011;49:30–6.
  • Nara M, Komatsuda A, Omokawa A, Togashi M, Okuyama S, Sawada K, et al. Serum interleukin 6 levels as a useful prognostic predictor of clinically amyopathic dermatomyositis with rapidly progressive interstitial lung disease. Mod Rheumatol 2014;24:633–6.
  • Takada T, Aoki A, Asakawa K, Sakagami T, Moriyama H, Narita I, et al. Serum cytokine profiles of patients with interstitial lung disease associated with anti-CADM-140/MDA5 antibody positive amyopathic dermatomyositis. Respir Med 2015;109:1174–80.
  • 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. Respir Med 2011;105:1380–7.
  • Xu Y, Yang CS, Li YJ, Liu XD, Wang JN, Zhao Q, et al. Predictive factors of rapidly progressive-interstitial lung disease in patients with clinically amyopathic dermatomyositis. Clin Rheumatol 2016;35:113–16.
  • Chaisson NF, Paik J, Orbai AM, Casciola-Rosen L, Fiorentino D, Danoff S, et al. A novel dermato-pulmonary syndrome associated with MDA-5 antibodies: report of 2 cases and review of the literature. Medicine (Baltimore) 2012;91:220–8.
  • 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 Res (Hoboken) 2016;68:689–94.
  • Sontheimer RD. Would a new name hasten the acceptance of amyopathic dermatomyositis (dermatomyositis sine myositis) as a distinctive subset within the idiopathic inflammatory dermatomyopathies spectrum of clinical illness? J Am Acad Dermatol 2002;46:626–36.
  • Gerami P, Schope JM, McDonald L, Walling HW, Sontheimer RD. A systematic review of adult-onset clinically amyopathic dermatomyositis (dermatomyositis sine myositis): a missing link within the spectrum of the idiopathic inflammatory myopathies. J Am Acad Dermatol 2006;54:597–613.
  • American Thoracic Society. Idiopathic pulmonary fibrosis: diagnosis and treatment. International consensus statement. American Thoracic Society (ATS), and the European Respiratory Society (ERS). Am J Respir Crit Care Med 2000;161:646–64.
  • Targoff IN, Mamyrova G, Trieu EP, Perurena O, Koneru B, O’Hanlon TP, et al. A novel autoantibody to a 155-kd protein is associated with dermatomyositis. Arthritis Rheum 2006;54:3682–9.
  • Trieu EP, Targoff IN. Immunoprecipitation: Western blot for proteins of low abundance. Methods Mol Biol 2015;1312:327–42.
  • Troyanov Y, Targoff IN, Payette MP, Raynauld JP, Chartier S, Goulet JR, et al. Redefining dermatomyositis: a description of new diagnostic criteria that differentiate pure dermatomyositis from overlap myositis with dermatomyositis features. Medicine (Baltimore) 2014;93:318–32.
  • 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. J Immunol Res 2014;2014:290797.
  • Zahn S, Barchet W, Rehkamper C, Hornung T, Bieber T, Tuting T, et al. Enhanced skin expression of melanoma differentiation-associated gene 5 (MDA5) in dermatomyositis and related autoimmune diseases. J Am Acad Dermatol 2011;64:988–9.
  • Satoh M, Tanaka S, Ceribelli A, Calise SJ, Chan EK. A comprehensive overview on myositis-specific antibodies: new and old biomarkers in idiopathic inflammatory myopathy. Clin Rev Allergy Immunol 2017;52:1–19.
  • Tanizawa K, Handa T, Nakashima R, Kubo T, Hosono Y, Aihara K, et al. The prognostic value of HRCT in myositis-associated interstitial lung disease. Respir Med 2013;107:745–52.
  • Sato S, Kuwana M, Fujita T, Suzuki Y. Amyopathic dermatomyositis developing rapidly progressive interstitial lung disease with elevation of anti-CADM-140/MDA5 autoantibodies. Mod Rheumatol 2012;22:625–9.
  • Gil B, Merav L, Pnina L, Chagai G. Diagnosis and treatment of clinically amyopathic dermatomyositis (CADM): a case series and literature review. Clin Rheumatol 2016;35:2125–30.
  • Clottu A, Laffitte E, Prins C, Chizzolini C. Response of mucocutaneous lesions to rituximab in a case of melanoma differentiation antigen 5-related dermatomyositis. Dermatology 2012;225:376–80.
  • Klein R, Rosenbach M, Kim EJ, Kim B, Werth VP, Dunham J. Tumor necrosis factor inhibitor-associated dermatomyositis. Arch Dermatol 2010;146:780–4.
  • Troyanov Y, Targoff IN, Tremblay JL, Goulet JR, Raymond Y, Senecal JL. Novel classification of idiopathic inflammatory myopathies based on overlap syndrome features and autoantibodies: analysis of 100 French Canadian patients. Medicine (Baltimore) 2005;84:231–49.
  • Murase C, Muro Y, Akiyama M. Rapid increase of serum anti-MDA-5 antibodies and exacerbation of clinically amyopathic dermatomyositis/interstitial lung disease. J Eur Acad Dermatol Venereol 2017;31:e43–e44.
  • Muro Y, Sugiura K, Hoshino K, Akiyama M. Disappearance of anti-MDA-5 autoantibodies in clinically amyopathic DM/interstitial lung disease during disease remission. Rheumatology (Oxford) 2012;51:800–4.
  • Kobayashi I, Okura Y, Yamada M, Kawamura N, Kuwana M, Ariga T. Anti-melanoma differentiation-associated gene 5 antibody is a diagnostic and predictive marker for interstitial lung diseases associated with juvenile dermatomyositis. J Pediatr 2011;158:675–7.
  • Matsushita T, Mizumaki K, Kano M, Yagi N, Tennichi M, Takeuchi A, et al. Anti-MDA5 antibody level is a novel tool for monitoring disease activity in rapidly progressive interstitial lung disease with dermatomyositis. Br J Dermatol 2017;176:395–402.
  • Senecal JL, Raynauld JP, Troyanov Y. Editorial: a new classification of adult autoimmune myositis. Arthritis Rheumatol 2017;69:878–84.
  • Suzuki A, Kondoh Y, Taniguchi H, Tabata K, Kimura T, Kataoka K, et al. Lung histopathological pattern in a survivor with rapidly progressive interstitial lung disease and anti-melanoma differentiation-associated gene 5 antibody-positive clinically amyopathic dermatomyositis. Respir Med Case Rep 2016;19:5–8.
  • 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. Clin Rheumatol 2016;35:489–93.
  • Lee LW, Narang NS, Postolova A, Seminara N, Kantor MA. Anti-MDA5-positive dermatomyositis presenting as fever of unknown origin. J Gen Intern Med 2016;31:1530–6.
  • Yoshimatsu Y, Kotani T, Fujiki Y, Oda K, Kataoka T, Yamairi K, et al. Successful treatment with intravenous high-dose immunoglobulin for cardiomyopathy in dermatomyositis complicated with rapid progressive interstitial pneumonia. Int J Rheum Dis. Published online 7 October 2015. doi: 10.1111/1756-185X.12746.
  • Watanabe R, Ishii T, Araki K, Ishizuka M, Kamogawa Y, Fujita Y, et al. Successful multi-target therapy using corticosteroid, tacrolimus, cyclophosphamide, and rituximab for rapidly progressive interstitial lung disease in a patient with clinically amyopathic dermatomyositis. Mod Rheumatol 2016;26:465–6.
  • Parronchi P, Radice A, Palterer B, Liotta F, Scaletti C. MDA5-positive dermatomyositis: an uncommon entity in Europe with variable clinical presentations. Clin Mol Allergy 2015;13:22.
  • Molina-Ruiz AM, Romero F, Carrasco L, Feltes F, Haro R, Requena L. Amyophatic dermatomyositis presenting as a flagellated skin eruption with positive MDA5 antibodies and thyroid cancer: a real association? Clin Exp Dermatol 2015;40:887–90.
  • Koichi Y, Aya Y, Megumi U, Shunichi K, Masafumi S, Hiroaki M, et al. A case of anti-MDA5-positive rapidly progressive interstitial lung disease in a patient with clinically amyopathic dermatomyositis ameliorated by rituximab, in addition to standard immunosuppressive treatment. Mod Rheumatol 2017;27:536–40.
  • Kobayashi N, Takezaki S, Kobayashi I, Iwata N, Mori M, Nagai K, et al. Clinical and laboratory features of fatal rapidly progressive interstitial lung disease associated with juvenile dermatomyositis. Rheumatology (Oxford) 2015;54:784–91.
  • Gorka J, Szczeklik W, Wludarczyk A, Loboda P, Chmura L, Musial J. Rapidly progressive interstitial lung fibrosis in a patient with amyopathic dermatomyositis and antiMDA5 antibodies. Pol Arch Med Wewn 2015;125:685–6.
  • Zou J, Li T, Huang X, Chen S, Guo Q, Bao C. Basiliximab may improve the survival rate of rapidly progressive interstitial pneumonia in patients with clinically amyopathic dermatomyositis with anti-MDA5 antibody. Ann Rheum Dis 2014;73:1591–3.
  • Yamaoka T, Doi C, Yokomi A, Tanemura A, Murota H, Tani M, et al. Anti-MDA5 antibody-positive dermatomyositis with lethal progressive interstitial lung disease and advanced gastric cancer. Eur J Dermatol 2014;24:490–1.
  • Tsuchiya H, Tsuno H, Inoue M, Takahashi Y, Yamashita H, Kaneko H, et al. Mycophenolate mofetil therapy for rapidly progressive interstitial lung disease in a patient with clinically amyopathic dermatomyositis. Mod Rheumatol 2014;24:694–6.
  • Tamai K, Tachikawa R, Otsuka K, Ueda H, Hosono Y, Tomii K. Early pulmonary involvement of anti-CADM-140 autoantibody-positive rapidly progressive interstitial lung disease preceding typical cutaneous symptoms. Intern Med 2014;53:2515–19.
  • Goussot R, Theulin A, Goetz J, Sibilia J, Gottenberg JE, Meyer A. An arthro-dermato-pulmonary syndrome associated with anti-MDA5 antibodies. Joint Bone Spine 2014;81:266.
  • Gerfaud-Valentin M, Ahmad K, Piegay F, Fabien N, Raphanel B, Cordier JF, et al. [Interstitial lung disease-associated with amyopathic dermatomyositis and anti-MDA5 autoantibodies], in French. Rev Mal Respir 2014;31:849–53.
  • Fujimoto N, Honda S, Wakabayashi M, Hamaguchi Y, Fujimoto M, Tanaka T. Anti-MDA-5 antibody-positive bullous dermatomyositis with palmar papules complicating rapidly progressive interstitial lung disease. Mod Rheumatol 2014;26:1–3.
  • Teruya A, Kawamura K, Ichikado K, Sato S, Yasuda Y, Yoshioka M. Successful polymyxin B hemoperfusion treatment associated with serial reduction of serum anti-CADM-140/MDA5 antibody levels in rapidly progressive interstitial lung disease with amyopathic dermatomyositis. Chest 2013;144:1934–6.
  • Shoji T, Bando T, Fujinaga T, Chen F, Sasano H, Yukawa N, et al. Living-donor lobar lung transplantation for rapidly progressive interstitial pneumonia associated with clinically amyopathic dermatomyositis: report of a case. Gen Thorac Cardiovasc Surg 2013;61:32–4.
  • Sasaki O, Dohi M, Harada H, Imamura M, Tsuchida Y, Yamaguchi K, et al. A case of polymyxin b-immobilized fiber column treatment for rapidly progressive interstitial pneumonia associated with clinically amyopathic dermatomyositis. Case Rep Med 2013;2013:750275.
  • Horai Y, Isomoto E, Koga T, Okada A, Kawashiri SY, Tamai M, et al. Early diagnosis and treatment for remission of clinically amyopathic dermatomyositis complicated by rapid progress interstitial lung disease: a report of two cases. Mod Rheumatol 2013;23:190–4.
  • Girard C, Vincent T, Bessis D. [Dermatomyositis and acute interstitial lung disease associated with MDA-5 antibodies: an atypical case], in French. Ann Dermatol Venereol 2013;140:628–34.
  • Morita Y, Kuwagata S, Kato N, Tsujimura Y, Mizutani H, Suehiro M, et al. 18F-FDG PET/CT useful for the early detection of rapidly progressive fatal interstitial lung disease in dermatomyositis. Intern Med 2012;51:1613–18.
  • Gono T, Kawaguchi Y, Ozeki E, Ota Y, Satoh T, Kuwana M, et al. Serum ferritin correlates with activity of anti-MDA5 antibody-associated acute interstitial lung disease as a complication of dermatomyositis. Mod Rheumatol 2011;21:223–7.
  • Nakashima R, Hosono Y, Mimori T. Clinical significance and new detection system of autoantibodies in myositis with interstitial lung disease. Lupus 2016;25:925–33.
  • Gono T, Miyake K, Kawaguchi Y, Kaneko H, Shinozaki M, Yamanaka H. Hyperferritinaemia and macrophage activation in a patient with interstitial lung disease with clinically amyopathic DM. Rheumatology (Oxford) 2012;51:1336–8.
  • Schulert GS, Grom AA. Pathogenesis of macrophage activation syndrome and potential for cytokine- directed therapies. Annu Rev Med 2015;66:145–59.
  • Groh M, Rogowska K, Monsarrat O, Denoel A, Blanche P, Guillevin L. Interleukin-1 receptor antagonist for refractory anti-MDA5 clinically amyopathic dermatomyopathy. Clin Exp Rheumatol 2015;33:904–5.

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