Multidisciplinary Approach to Anti-MDA5 Antibody-positive Dermatomyositis Associated with Rapidly Progressive Interstitial Lung Disease

Overview

Journal BMJ Case Rep

Specialty General Medicine

Date 2022 Mar 3

PMID 35236677

Authors

Anna Barbara Witkowska

Sharon Cowley

Philip Dempsey

John Stack

Affiliations

Soon will be listed here.

Abstract

A man in his 40s was referred to our centre with rapidly progressive interstitial lung disease for lung transplant evaluation. Three months prior to his presentation he had developed periorbital oedema and discolouration, papules over the dorsal aspect of his metacarpophalangeal (MCP) joints and mucocutaneous ulcerations over the dorsum and palmar aspects of his MCPs. He had also been experiencing progressive shortness of breath. Based on the characteristic appearance of the cutaneous lesions, lack of muscle weakness on clinical examination, rapid progression of the interstitial lung disease together with presence of melanoma differentiation-associated gene 5 (MDA5) antibodies a diagnosis of anti-MDA5 dermatomyositis was made. Prompt treatment was initiated with aggressive combined immunomodulatory therapy that resulted in significant improvement in symptoms.

Citing Articles

Clinical Characteristics and Outcomes of Patients with Anti-MDA5 Antibody Associated Rapidly Progressive Interstitial Lung Disease (RP-ILD): A Case Series.

Gangadharan H, Seetha A, Musthafa S, Shenoy P, Francis M, Krishna A Mediterr J Rheumatol. 2025; 35(4):668-679.

PMID: 39886293 PMC: 11778606. DOI: 10.31138/mjr.020324.cco.

Unveiling the Connections Between Melanoma Differentiation-Associated Gene 5 (MDA5)-Positive Dermatomyositis and Its Potential Association With COVID-19: A Report of Two Cases.

Abegunde T, Persad C, Ojule S, Colgan J, Duncan M Cureus. 2024; 16(7):e65016.

PMID: 39165465 PMC: 11333848. DOI: 10.7759/cureus.65016.

References

Rider L, Yip A, Horkayne-Szakaly I, Volochayev R, Shrader J, Turner M . Novel assessment tools to evaluate clinical and laboratory responses in a subset of patients enrolled in the Rituximab in Myositis trial. Clin Exp Rheumatol. 2014; 32(5):689-96. PMC: 4644185. View

Rider L, Koziol D, Giannini E, Jain M, Smith M, Whitney-Mahoney K . Validation of manual muscle testing and a subset of eight muscles for adult and juvenile idiopathic inflammatory myopathies. Arthritis Care Res (Hoboken). 2010; 62(4):465-72. PMC: 2924143. DOI: 10.1002/acr.20035. View

Labrador-Horrillo M, Martinez M, Selva-OCallaghan A, Trallero-Araguas E, Balada E, Vilardell-Tarres M . Anti-MDA5 antibodies in a large Mediterranean population of adults with dermatomyositis. J Immunol Res. 2014; 2014:290797. PMC: 3987881. DOI: 10.1155/2014/290797. View

Tsuji H, Nakashima R, Hosono Y, Imura Y, Yagita M, Yoshifuji H . Multicenter Prospective Study of the Efficacy and Safety of Combined Immunosuppressive Therapy With High-Dose Glucocorticoid, Tacrolimus, and Cyclophosphamide in Interstitial Lung Diseases Accompanied by Anti-Melanoma Differentiation-Associated Gene.... Arthritis Rheumatol. 2019; 72(3):488-498. DOI: 10.1002/art.41105. View

Kurtzman D, Vleugels R . Anti-melanoma differentiation-associated gene 5 (MDA5) dermatomyositis: A concise review with an emphasis on distinctive clinical features. J Am Acad Dermatol. 2017; 78(4):776-785. DOI: 10.1016/j.jaad.2017.12.010. View

Huh J, Kim D, Lee C, Yoo B, Seo J, Kitaichi M . Two distinct clinical types of interstitial lung disease associated with polymyositis-dermatomyositis. Respir Med. 2007; 101(8):1761-9. DOI: 10.1016/j.rmed.2007.02.017. View

Phillips K, Byrne-Dugan C, Batterson E, Seibold J . Rapidly progressive fatal interstitial lung disease in a patient with systemic sclerosis. Nat Rev Rheumatol. 2009; 5(4):225-8. DOI: 10.1038/nrrheum.2009.30. View

Go D, Park J, Kang E, Kwon H, Lee Y, Song Y . Survival benefit associated with early cyclosporine treatment for dermatomyositis-associated interstitial lung disease. Rheumatol Int. 2015; 36(1):125-31. DOI: 10.1007/s00296-015-3328-8. View

Sato S, Hirakata M, Kuwana M, Suwa A, Inada S, Mimori T . Autoantibodies to a 140-kd polypeptide, CADM-140, in Japanese patients with clinically amyopathic dermatomyositis. Arthritis Rheum. 2005; 52(5):1571-6. DOI: 10.1002/art.21023. View

10.

Sato S, Hoshino K, Satoh T, Fujita T, Kawakami Y, Fujita T . 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):2193-200. DOI: 10.1002/art.24621. View

11.

Takeuchi O, Akira S . MDA5/RIG-I and virus recognition. Curr Opin Immunol. 2008; 20(1):17-22. DOI: 10.1016/j.coi.2008.01.002. View

12.

Nawata Y, Kurasawa K, Takabayashi K, Miike S, Watanabe N, Hiraguri M . Corticosteroid resistant interstitial pneumonitis in dermatomyositis/polymyositis: prediction and treatment with cyclosporine. J Rheumatol. 1999; 26(7):1527-33. View

13.

Reichenspurner H, Gamberg P, Nitschke M, Valantine H, Hunt S, Oyer P . Significant reduction in the number of fungal infections after lung-, heart-lung, and heart transplantation using aerosolized amphotericin B prophylaxis. Transplant Proc. 1997; 29(1-2):627-8. DOI: 10.1016/s0041-1345(96)00363-6. View

14.

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(1):25-34. PMC: 3167687. DOI: 10.1016/j.jaad.2010.09.016. View

15.

Shirakashi M, Nakashima R, Tsuji H, Tanizawa K, Handa T, Hosono Y . Efficacy of plasma exchange in anti-MDA5-positive dermatomyositis with interstitial lung disease under combined immunosuppressive treatment. Rheumatology (Oxford). 2020; 59(11):3284-3292. DOI: 10.1093/rheumatology/keaa123. View

16.

Chaisson N, Paik J, Orbai A, Casciola-Rosen L, Fiorentino D, Danoff S . A novel dermato-pulmonary syndrome associated with MDA-5 antibodies: report of 2 cases and review of the literature. Medicine (Baltimore). 2012; 91(4):220-228. PMC: 3726263. DOI: 10.1097/MD.0b013e3182606f0b. View

17.

Suzuki A, Kondoh Y, Taniguchi H, Tabata K, Kimura T, Kataoka K . 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. PMC: 4910142. DOI: 10.1016/j.rmcr.2016.05.008. View

18.

Jorizzo J . Dermatomyositis: practical aspects. Arch Dermatol. 2002; 138(1):114-6. DOI: 10.1001/archderm.138.1.114. View

19.

Gono T, Kawaguchi Y, Ozeki E, Ota Y, Satoh T, Kuwana M . Serum ferritin correlates with activity of anti-MDA5 antibody-associated acute interstitial lung disease as a complication of dermatomyositis. Mod Rheumatol. 2010; 21(2):223-7. DOI: 10.1007/s10165-010-0371-x. View

20.

Fasano S, Gordon P, Hajji R, Loyo E, Isenberg D . Rituximab in the treatment of inflammatory myopathies: a review. Rheumatology (Oxford). 2016; 56(1):26-36. DOI: 10.1093/rheumatology/kew146. View