{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T06:10:22Z","timestamp":1756275022239,"version":"3.44.0"},"reference-count":18,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,6,10]]},"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:p>Anti-melanoma differentiation-associated gene 5-positive (Anti-MDA5) dermatomyositis (DM) is an aggressive phenotype of DM associated with rapidly progressive interstitial lung disease (RP-ILD). It is a rare condition that carries high mortality. Diagnosis and management of patients with anti-MDA5 DM RP-ILD presents several challenges, including uncertainty around treatment algorithms and a lack of evidence to inform practice. This case report of a patient with anti-MDA5 DM RP-ILD highlights these challenges, emphasising the fulminant course of this disease despite aggressive immunosuppression. Further research is required to guide management and to minimise morbidity and mortality, and greater awareness of the condition is required to minimise delays in diagnosis.<\/jats:p>","DOI":"10.1136\/bcr-2023-259338","type":"journal-article","created":{"date-parts":[[2024,6,22]],"date-time":"2024-06-22T10:40:16Z","timestamp":1719052816000},"page":"e259338","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Anti-melanoma differentiation-associated gene 5 (anti-MDA5) positive dermatomyositis: early detection is crucial"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2569-6633","authenticated-orcid":false,"given":"Shruti","family":"Goradia","sequence":"first","affiliation":[{"name":"Faculty of Medicine Dentistry and Health Sciences, The University of Melbourne, Melbourne Medical School, Melbourne, Victoria, Australia"},{"name":"Department of Pharmacy, Alfred Hospital, Melbourne, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Holper","sequence":"additional","affiliation":[{"name":"Department of Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia"},{"name":"Institute of Medical Research Immunology Division, Walter and Eliza Hall, Melbourne, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan Z","family":"Lim","sequence":"additional","affiliation":[{"name":"Monash University School of Public Health and Preventive Medicine, Melbourne, Victoria, Australia"},{"name":"Department of Rheumatology, Alfred Health, Melbourne, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharmayne R E","family":"Brady","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Alfred Health, Melbourne, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,6,22]]},"reference":[{"key":"2025082622443888000_17.6.e259338.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2006.07.001"},{"key":"2025082622443888000_17.6.e259338.2","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2021.773352","article-title":"Dermatomyositis with anti-Mda5 antibodies: Bioclinical features, pathogenesis and emerging therapies","volume":"12","author":"Nombel","year":"2021","journal-title":"Front Immunol"},{"key":"2025082622443888000_17.6.e259338.3","doi-asserted-by":"crossref","DOI":"10.1136\/rmdopen-2023-003150","article-title":"Clinical, radiological and pathological features of anti-Mda5 antibody-associated interstitial lung disease","volume":"9","author":"Chen","year":"2023","journal-title":"RMD Open"},{"key":"2025082622443888000_17.6.e259338.4","doi-asserted-by":"crossref","first-page":"4437","DOI":"10.1093\/rheumatology\/keac094","article-title":"Predictors of rapidly progressive interstitial lung disease and mortality in patients with Autoantibodies against Melanoma differentiation-associated protein 5 dermatomyositis","volume":"61","author":"So","year":"2022","journal-title":"Rheumatology (Oxford)"},{"key":"2025082622443888000_17.6.e259338.5","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1007\/s00296-021-04819-1","article-title":"Understanding and managing anti-MDA 5 dermatomyositis, including potential COVID-19 Mimicry","volume":"41","author":"Mehta","year":"2021","journal-title":"Rheumatol Int"},{"key":"2025082622443888000_17.6.e259338.6","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2009.328"},{"key":"2025082622443888000_17.6.e259338.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.semarthrit.2020.03.007"},{"key":"2025082622443888000_17.6.e259338.8","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s40674-021-00186-x","article-title":"Pharmacologic treatment of anti-Mda5 rapidly progressive interstitial lung disease","volume":"7","author":"Selva-O\u2019Callaghan","year":"2021","journal-title":"Curr Treatm Opt Rheumatol"},{"key":"2025082622443888000_17.6.e259338.9","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1002\/art.41105","article-title":"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 5-positive dermatomyositis","volume":"72","author":"Tsuji","year":"2020","journal-title":"Arthritis Rheumatol"},{"key":"2025082622443888000_17.6.e259338.10","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1080\/14397595.2017.1318468","article-title":"Evaluation of clinical Prognostic factors for interstitial pneumonia in anti-Mda5 antibody-positive dermatomyositis patients","volume":"28","author":"Fujiki","year":"2018","journal-title":"Mod Rheumatol"},{"key":"2025082622443888000_17.6.e259338.11","doi-asserted-by":"publisher","DOI":"10.1007\/s10165-010-0371-x"},{"key":"2025082622443888000_17.6.e259338.12","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/key188"},{"key":"2025082622443888000_17.6.e259338.13","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.312.7023.71"},{"key":"2025082622443888000_17.6.e259338.14","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1056\/NEJMc1900045","article-title":"Tofacitinib in Amyopathic dermatomyositis\u2013associated interstitial lung disease","volume":"381","author":"Chen","year":"2019","journal-title":"N Engl J Med"},{"key":"2025082622443888000_17.6.e259338.15","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1111\/1346-8138.15274","article-title":"Combined immunosuppressive therapy provides favorable prognosis and increased risk of cytomegalovirus reactivation in anti-Melanoma differentiation-associated gene 5 antibody-positive dermatomyositis","volume":"47","author":"Matsuda","year":"2020","journal-title":"J Dermatol"},{"key":"2025082622443888000_17.6.e259338.16","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1080\/03009742.2017.1334814","article-title":"Describing and expanding the clinical phenotype of anti-Mda5-associated rapidly progressive interstitial lung disease: case series of nine Canadian patients and literature review","volume":"47","author":"Hoa","year":"2018","journal-title":"Scand J Rheumatol"},{"key":"2025082622443888000_17.6.e259338.17","doi-asserted-by":"crossref","first-page":"190","DOI":"10.3109\/s10165-012-0637-6","article-title":"Early diagnosis and treatment for remission of clinically Amyopathic dermatomyositis complicated by rapid progress interstitial lung disease: a report of two cases","volume":"23","author":"Horai","year":"2013","journal-title":"Mod Rheumatol"},{"key":"2025082622443888000_17.6.e259338.18","doi-asserted-by":"crossref","first-page":"S574","DOI":"10.1097\/RHU.0000000000000984","article-title":"Successful treatment for refractory interstitial lung disease and Pneumomediastinum with Multidisciplinary therapy including tofacitinib in a patient with anti-Mda5 antibody-positive dermatomyositis","volume":"27","author":"Kato","year":"2021","journal-title":"J Clin Rheumatol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-259338","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T05:44:43Z","timestamp":1756273483000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-259338"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":18,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,6,22]]},"published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1136\/bcr-2023-259338"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-259338","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,6]]}}}