Progress in diagnosis and treatment of interstitial lung disease in patients with melanoma differentiation-associated gene 5 antibody-positive dermatomyositis_West China Medical Journal

Authors：

YANG Hanqing ¹ ,  LUO Fengming ²

1. Department of General Medicine, People’s Hospital of Changshou Chongqing, Chongqing 401220, P. R. China;
2. Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;

Corresponding author：

LUO Fengming, Email: 790847157@qq.com

Keywords：

Dermatomyositis; Clinically amyopathic dermatomyositis; Interstitial lung disease; Melanoma differentiation-associated gene 5 antibody

DOI：

10.7507/1002-0179.201911266

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Melanoma differentiation associated gene 5 (MDA5) antibody is a kind of myositis-specific autoantibodies, which can be used as a biological marker for dermatomyositis (DM) patients. It has been shown that this antibody is closely related to the occurrence of interstilung disease (ILD) in DM patients, which may lead to rapidly progressive interstitial lung disease in DM patients with MDA5 antibody positive, leading to a higher mortality rate. Therefore, the early detection, diagnosis and treatment of this disease have attracted the attention of clinical workers. In this paper, the progress of diagnosis and treatment of MDA5 antibody-positive DM with ILD is reviewed.

Citation： YANG Hanqing, LUO Fengming. Progress in diagnosis and treatment of interstitial lung disease in patients with melanoma differentiation-associated gene 5 antibody-positive dermatomyositis. West China Medical Journal, 2021, 36(1): 120-124. doi: 10.7507/1002-0179.201911266 Copy

1.	Wolstencroft PW, Fiorentino DF. Dermatomyositis clinical and pathological phenotypes associated with myositis-specifific autoantibodies. Curr Rheumatol Rep, 2018, 20(5): 28.
2.	Meyer KC, Raghu G, Baughman RP, et al. An official American thoracic society clinical practice guideline: the clinical utility of bronchoalveplar lavage cellular analysis in interstitial lung diease. Am J Respir Crit Care Med, 2012, 185(9): 1004-1014.
3.	Satoh M, Tanaka S, Ceribelli A, et al. A comprehensive overview on myositis-specific antibodies: new and old biomarkers in idiopathic inflammatory myopathy. Clin Rev Allergy Immunol, 2017, 52(1): 1-19.
4.	Sato S, Murakami A, Kuwajima A, et al. Clinical utility of an enzyme-linked immunosorbent assay for detecting anti-melanoma differentiation-associated gene 5 autoantibodies. PLoS One, 2016, 11(4): e0154285.
5.	田苡箫, 李菁, 王迁. 黑色素瘤分化相关基因 5 及其抗体在炎性肌病的临床意义. 中华临床免疫和变态反应杂志, 2018, 12(5): 537-544.
6.	Hallowell RW, Ascherman DP, Danoff SK. Pulmonary manifestations of polymyositis/dermatomyositis. Semin Respir Crit Care Med, 2014, 35(2): 239-248.
7.	Chen Z, Hu W, Wang Y, et al. Distinct profiles of myositis-specific autoantibodies in Chinese and Japanese patients with polymyositis/dermatomyositis. Clin Rheumatol, 2015, 34(9): 1627-1631.
8.	Chen Z, Cao M, Plana MN, 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 (Hoboken), 2013, 65(8): 1316-1324.
9.	Li L, Wang H, Wang Q, et al. Myositis-specific autoantibodies in dermatomyositis/polymyositis with interstitial lung disease. J Neurol Sci, 2019, 397: 123-128.
10.	Ikeda S, Arita M, Misaki K, et al. Incidence and impact of interstitial lung disease and malignancy in patients with polymyositis, dermatomyositis, and clinically amyopathic dermatomyositis: a retrospective cohort study. Springerplus, 2015, 4: 240.
11.	Kawasumi H, Gono T, Kawaguchi Y, et al. Recent treatment of interstitial lung disease with idiopathic inflammatory myopathies. Clin Med Insights Circ Respir Pulm Med, 2015, 9(Suppl 1): 9-17.
12.	Hozumi H, Fujisawa T, Nakashima R, et al. Comprehensive assessment of myositis-specifific autoantibodies in polymyositis/dermatomyositis-associated interstitial lung disease. Respir Med, 2016, 121: 91-99.
13.	Yoshida N, Okamoto M, Kaieda S, et al. Association of anti-aminoacyl-transfer RNA synthetase antibody and anti-melanoma differentiation-associated gene 5 antibody with the therapeutic response ofpolymyositis/dermatomyositis-associated interstitial lung disease. Respir Investig, 2017, 55(1): 24-32.
14.	Sakamoto S, Okamoto M, Kaieda S, et al. Low positive titer of anti-melanoma differentiation-associated gene 5 antibody is not associated with a poor long-term outcome of interstitial lung disease in patients with dermatomyositis. Respir Investig, 2018, 56(6): 464-472.
15.	Fiorentino D, Chung L, Zwerner J, et al. The mucocutaneous and systemic phenotype of dermatomyositis patients with antibodies to MDA5 (CADM-140): a retrospective study. J Am Acad Dermatol, 2011, 65(1): 25-34.
16.	Moghadam-Kia S, Oddis CV, Aggarwal R. Anti-MDA5 antibody spectrum in western world. Curr Rheumatol Rep, 2018, 20(12): 78.
17.	Li J, Liu Y, Li Y, et al. Associations between anti-melanoma differentiation- associated gene 5 antibody and demographics, clinical characteristics and laboratory results of patients with dermatomyositis: a systematic meta-analysis. J Dermatol, 2018, 45(1): 46-52.
18.	Abe Y, Matsushita M, Tada K, et al. Clinical characteristics and change in the antibody titres of patients with anti-MDA5 antibody-positive inflammatory myositis. Rheumatology (Oxford), 2017, 56(9): 1492-1497.
19.	Chino H, Sekine A, Baba T, et al. Radiological and pathological correlation in anti-MDA5 antibody-positive interstitial lung disease: rapidly progressive perilobular opacities and diffuse alveolar damage. Intern Med, 2016, 55(16): 2241-2246.
20.	Tanizawa K, Handa T, Nakashima R, et al. HRCT features of interstitial lung disease in dermatomyositis with anti-CADM-140 antibody. Respir Med, 2011, 105(9): 1380-1387.
21.	Matsushita T, Mizumaki K, Kano M, et al. Antimelanoma differentiation-associated protein 5 antibody level is a novel tool for monitoring disease activity in rapidly progressive interstitial lung disease with dermatomyositis. Br J Dermatol, 2017, 176(2): 395-402.
22.	Gono T, Sato S, Kawaguchi 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.
23.	Nishioka A, Tsunoda S, Abe T, et al. Serum neopterin as well as ferritin, soluble interleukin-2 receptor, KL-6 and anti-MDA5 antibody titer provide markers of the response to therapy in patients with interstitial lung disease complicating anti-MDA5 antibody-positive dermatomyositis. Modern Rheumatology, 2019, 29(5): 814-820.
24.	Ono N, Kai K, Maruyama A, et al. The relationship between type 1 IFN and vasculopathy in anti-MDA5 antibody-positive dermatomyositis patients. Rheumatology (Oxford), 2019, 58(5): 786-791.
25.	Sato S, Hoshino K, Satoh 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(7): 2193-2200.
26.	Bohan A, Peter JB. Polymyositis and dermatomyositis (first of two parts). N Engl J Med, 1975, 292(7): 344-347.
27.	Bohan A, Peter JB. Polymyositis and dermatomyositis (second of two parts). N Engl J Med, 1975, 292(8): 403-407.
28.	Sontheimer RD. Would a new name hasten the acceptance of amyopathic dermatomyositis (dermatomyositis siné myositis) asa distinctive subset within the idiopathic inflflammatory dermatomyopathies spectrum of clinical illness?. J Am Acad Dermatol, 2002, 46(4): 626-636.
29.	Travis WD, Costabel U, Hansell DM, et al. An official American thoracic society/European respiratory society statement: update of the international multidisciplinary classification of the idiopathic interstitial pneumonias. Am J Respir Crit Care Med, 2013, 188(6): 733-748.
30.	Wang DX, Shu XM, Tian XL, et al. Intravenous immunoglobulin therapy in adult patients with polymyositis/dermatomyositis:a systematic literature review. Clin Rheumatol, 2012, 31(5): 801-806.
31.	Kurasawa K, Arai S, Namiki Y, et al. Tofacitinib for refractory interstitial lung diseases in anti-melanoma differentiation-associated 5 gene antibody-positive dermatomyositis. Rheumatology (Oxford), 2018, 57(12): 2114-2119.
32.	Nakashima R, Mimori T. Anti-MDA5 (melanoma differentiation-associated gene 5) antibody and dermatomyositis with rapidly progressive interstitial pneumonia. Nihon Rinsho Meneki Gakkai Kaishi, 2013, 36(2): 71-76.
33.	Nakashima R, Hosono Y, Mimori T. Clinical signifificance and new detection system of autoantibodies in myositis with interstitial lung disease. Lupus, 2016, 25(8): 925-933.
34.	Aoyama J, Hayashi H, Yajima C, et al. Anti-MDA5 antibody-positive rapidly progressive interstitial pneumonia without cutaneous manifestations. Respir Med Case Rep, 2019, 26: 193-196.
35.	Fujiki Y, Kotani T, Isoda K, et al. Evaluation of clinical prognostic factors for interstitial pneumonia in anti-MDA5 antibody-positive dermatomyositis patients. Mod Rheumatol, 2018, 28(1): 133-140.
36.	So H, Wong VTL, Lao VWN, et al. Rituximab for refractory rapidly progressive interstitial lung disease related to anti-MDA5 antibody-positive amyopathic dermatomyositis. Clin Rheumatol, 2018, 37(7): 1983-1989.
37.	厉彦山, 姜莉, 李尊忠, 等. 吡非尼酮治疗皮肌炎相关肺间质病变1例报告. 中国临床医学, 2016, 23(2): 253-255.
38.	Miura Y, Saito T, Fujita K, et al. Clinical experience with pirfenidone in five patients with scleroderma-related interstitial lung disease. Sarcoidosis Vasc Diffuse Lung Dis, 2014, 31(3): 235-238.
39.	Richeldi L, du Bois RM, Raghu G, et al. Efficacy and safety of nintedanib in idiopathic pulmonary fibrosis. N Engl J Med, 2014, 370(22): 2071-2082.
40.	Tepede A, Yogaratnam D. Nintedanib for Idiopathic Pulmonary Fibrosis. J Pharm Pract, 2019, 32(2): 199-206.
41.	Distler O, Highland KB, Gahlemann M, et al. Nintedanib for systemic sclerosis-associated interstitial lung disease. N Engl J Med, 2019, 380(26): 2518-2528.
42.	Bambauer R, Latza R, Bambauer C, et al. Therapeutic apheresis in autoimmune diseases. Open Access Rheumatol, 2013, 5: 93-103.
43.	Endo Y, Koga T, Suzuki T, et al. Successful treatment of plasma exchange for rapidly progressive interstitial lung disease with anti-MDA5 antibody-positive dermatomyositis: a case report. Medicine (Baltimore), 2018, 97(15): e0436.
44.	Yagishita M, Kondo Y, Terasaki T, et al. Clinically amyopathic dermatomyositis with interstitial pneumonia that was successfully treated with plasma exchange. Intern Med, 2018, 57(13): 1935-1938.
45.	Abe Y, Kusaoi M, Tada K, et al. Successful treatment of anti-MDA5 antibody-positive refractory interstitial lung disease with plasma exchange therapy. Rheumatology (Oxford), 2020, 59(4): 767-771.

1. Wolstencroft PW, Fiorentino DF. Dermatomyositis clinical and pathological phenotypes associated with myositis-specifific autoantibodies. Curr Rheumatol Rep, 2018, 20(5): 28.
2. Meyer KC, Raghu G, Baughman RP, et al. An official American thoracic society clinical practice guideline: the clinical utility of bronchoalveplar lavage cellular analysis in interstitial lung diease. Am J Respir Crit Care Med, 2012, 185(9): 1004-1014.
3. Satoh M, Tanaka S, Ceribelli A, et al. A comprehensive overview on myositis-specific antibodies: new and old biomarkers in idiopathic inflammatory myopathy. Clin Rev Allergy Immunol, 2017, 52(1): 1-19.
4. Sato S, Murakami A, Kuwajima A, et al. Clinical utility of an enzyme-linked immunosorbent assay for detecting anti-melanoma differentiation-associated gene 5 autoantibodies. PLoS One, 2016, 11(4): e0154285.
5. 田苡箫, 李菁, 王迁. 黑色素瘤分化相关基因 5 及其抗体在炎性肌病的临床意义. 中华临床免疫和变态反应杂志, 2018, 12(5): 537-544.
6. Hallowell RW, Ascherman DP, Danoff SK. Pulmonary manifestations of polymyositis/dermatomyositis. Semin Respir Crit Care Med, 2014, 35(2): 239-248.
7. Chen Z, Hu W, Wang Y, et al. Distinct profiles of myositis-specific autoantibodies in Chinese and Japanese patients with polymyositis/dermatomyositis. Clin Rheumatol, 2015, 34(9): 1627-1631.
8. Chen Z, Cao M, Plana MN, 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 (Hoboken), 2013, 65(8): 1316-1324.
9. Li L, Wang H, Wang Q, et al. Myositis-specific autoantibodies in dermatomyositis/polymyositis with interstitial lung disease. J Neurol Sci, 2019, 397: 123-128.
10. Ikeda S, Arita M, Misaki K, et al. Incidence and impact of interstitial lung disease and malignancy in patients with polymyositis, dermatomyositis, and clinically amyopathic dermatomyositis: a retrospective cohort study. Springerplus, 2015, 4: 240.
11. Kawasumi H, Gono T, Kawaguchi Y, et al. Recent treatment of interstitial lung disease with idiopathic inflammatory myopathies. Clin Med Insights Circ Respir Pulm Med, 2015, 9(Suppl 1): 9-17.
12. Hozumi H, Fujisawa T, Nakashima R, et al. Comprehensive assessment of myositis-specifific autoantibodies in polymyositis/dermatomyositis-associated interstitial lung disease. Respir Med, 2016, 121: 91-99.
13. Yoshida N, Okamoto M, Kaieda S, et al. Association of anti-aminoacyl-transfer RNA synthetase antibody and anti-melanoma differentiation-associated gene 5 antibody with the therapeutic response ofpolymyositis/dermatomyositis-associated interstitial lung disease. Respir Investig, 2017, 55(1): 24-32.
14. Sakamoto S, Okamoto M, Kaieda S, et al. Low positive titer of anti-melanoma differentiation-associated gene 5 antibody is not associated with a poor long-term outcome of interstitial lung disease in patients with dermatomyositis. Respir Investig, 2018, 56(6): 464-472.
15. Fiorentino D, Chung L, Zwerner J, et al. The mucocutaneous and systemic phenotype of dermatomyositis patients with antibodies to MDA5 (CADM-140): a retrospective study. J Am Acad Dermatol, 2011, 65(1): 25-34.
16. Moghadam-Kia S, Oddis CV, Aggarwal R. Anti-MDA5 antibody spectrum in western world. Curr Rheumatol Rep, 2018, 20(12): 78.
17. Li J, Liu Y, Li Y, et al. Associations between anti-melanoma differentiation- associated gene 5 antibody and demographics, clinical characteristics and laboratory results of patients with dermatomyositis: a systematic meta-analysis. J Dermatol, 2018, 45(1): 46-52.
18. Abe Y, Matsushita M, Tada K, et al. Clinical characteristics and change in the antibody titres of patients with anti-MDA5 antibody-positive inflammatory myositis. Rheumatology (Oxford), 2017, 56(9): 1492-1497.
19. Chino H, Sekine A, Baba T, et al. Radiological and pathological correlation in anti-MDA5 antibody-positive interstitial lung disease: rapidly progressive perilobular opacities and diffuse alveolar damage. Intern Med, 2016, 55(16): 2241-2246.
20. Tanizawa K, Handa T, Nakashima R, et al. HRCT features of interstitial lung disease in dermatomyositis with anti-CADM-140 antibody. Respir Med, 2011, 105(9): 1380-1387.
21. Matsushita T, Mizumaki K, Kano M, et al. Antimelanoma differentiation-associated protein 5 antibody level is a novel tool for monitoring disease activity in rapidly progressive interstitial lung disease with dermatomyositis. Br J Dermatol, 2017, 176(2): 395-402.
22. Gono T, Sato S, Kawaguchi 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.
23. Nishioka A, Tsunoda S, Abe T, et al. Serum neopterin as well as ferritin, soluble interleukin-2 receptor, KL-6 and anti-MDA5 antibody titer provide markers of the response to therapy in patients with interstitial lung disease complicating anti-MDA5 antibody-positive dermatomyositis. Modern Rheumatology, 2019, 29(5): 814-820.
24. Ono N, Kai K, Maruyama A, et al. The relationship between type 1 IFN and vasculopathy in anti-MDA5 antibody-positive dermatomyositis patients. Rheumatology (Oxford), 2019, 58(5): 786-791.
25. Sato S, Hoshino K, Satoh 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(7): 2193-2200.
26. Bohan A, Peter JB. Polymyositis and dermatomyositis (first of two parts). N Engl J Med, 1975, 292(7): 344-347.
27. Bohan A, Peter JB. Polymyositis and dermatomyositis (second of two parts). N Engl J Med, 1975, 292(8): 403-407.
28. Sontheimer RD. Would a new name hasten the acceptance of amyopathic dermatomyositis (dermatomyositis siné myositis) asa distinctive subset within the idiopathic inflflammatory dermatomyopathies spectrum of clinical illness?. J Am Acad Dermatol, 2002, 46(4): 626-636.
29. Travis WD, Costabel U, Hansell DM, et al. An official American thoracic society/European respiratory society statement: update of the international multidisciplinary classification of the idiopathic interstitial pneumonias. Am J Respir Crit Care Med, 2013, 188(6): 733-748.
30. Wang DX, Shu XM, Tian XL, et al. Intravenous immunoglobulin therapy in adult patients with polymyositis/dermatomyositis:a systematic literature review. Clin Rheumatol, 2012, 31(5): 801-806.
31. Kurasawa K, Arai S, Namiki Y, et al. Tofacitinib for refractory interstitial lung diseases in anti-melanoma differentiation-associated 5 gene antibody-positive dermatomyositis. Rheumatology (Oxford), 2018, 57(12): 2114-2119.
32. Nakashima R, Mimori T. Anti-MDA5 (melanoma differentiation-associated gene 5) antibody and dermatomyositis with rapidly progressive interstitial pneumonia. Nihon Rinsho Meneki Gakkai Kaishi, 2013, 36(2): 71-76.
33. Nakashima R, Hosono Y, Mimori T. Clinical signifificance and new detection system of autoantibodies in myositis with interstitial lung disease. Lupus, 2016, 25(8): 925-933.
34. Aoyama J, Hayashi H, Yajima C, et al. Anti-MDA5 antibody-positive rapidly progressive interstitial pneumonia without cutaneous manifestations. Respir Med Case Rep, 2019, 26: 193-196.
35. Fujiki Y, Kotani T, Isoda K, et al. Evaluation of clinical prognostic factors for interstitial pneumonia in anti-MDA5 antibody-positive dermatomyositis patients. Mod Rheumatol, 2018, 28(1): 133-140.
36. So H, Wong VTL, Lao VWN, et al. Rituximab for refractory rapidly progressive interstitial lung disease related to anti-MDA5 antibody-positive amyopathic dermatomyositis. Clin Rheumatol, 2018, 37(7): 1983-1989.
37. 厉彦山, 姜莉, 李尊忠, 等. 吡非尼酮治疗皮肌炎相关肺间质病变1例报告. 中国临床医学, 2016, 23(2): 253-255.
38. Miura Y, Saito T, Fujita K, et al. Clinical experience with pirfenidone in five patients with scleroderma-related interstitial lung disease. Sarcoidosis Vasc Diffuse Lung Dis, 2014, 31(3): 235-238.
39. Richeldi L, du Bois RM, Raghu G, et al. Efficacy and safety of nintedanib in idiopathic pulmonary fibrosis. N Engl J Med, 2014, 370(22): 2071-2082.
40. Tepede A, Yogaratnam D. Nintedanib for Idiopathic Pulmonary Fibrosis. J Pharm Pract, 2019, 32(2): 199-206.
41. Distler O, Highland KB, Gahlemann M, et al. Nintedanib for systemic sclerosis-associated interstitial lung disease. N Engl J Med, 2019, 380(26): 2518-2528.
42. Bambauer R, Latza R, Bambauer C, et al. Therapeutic apheresis in autoimmune diseases. Open Access Rheumatol, 2013, 5: 93-103.
43. Endo Y, Koga T, Suzuki T, et al. Successful treatment of plasma exchange for rapidly progressive interstitial lung disease with anti-MDA5 antibody-positive dermatomyositis: a case report. Medicine (Baltimore), 2018, 97(15): e0436.
44. Yagishita M, Kondo Y, Terasaki T, et al. Clinically amyopathic dermatomyositis with interstitial pneumonia that was successfully treated with plasma exchange. Intern Med, 2018, 57(13): 1935-1938.
45. Abe Y, Kusaoi M, Tada K, et al. Successful treatment of anti-MDA5 antibody-positive refractory interstitial lung disease with plasma exchange therapy. Rheumatology (Oxford), 2020, 59(4): 767-771.

West China Medical Journal

Progress in diagnosis and treatment of interstitial lung disease in patients with melanoma differentiation-associated gene 5 antibody-positive dermatomyositis

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