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Anti-melanoma differentiation-associated gene 5 (anti-MDA5) positive dermatomyositis: early detection is crucial
  1. Shruti Goradia1,2,
  2. Sarah Holper3,4,
  3. Yuan Z Lim5,6 and
  4. Sharmayne R E Brady6
  1. 1Faculty of Medicine Dentistry and Health Sciences, The University of Melbourne, Melbourne Medical School, Melbourne, Victoria, Australia
  2. 2Department of Pharmacy, Alfred Hospital, Melbourne, Victoria, Australia
  3. 3Department of Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia
  4. 4Institute of Medical Research Immunology Division, Walter and Eliza Hall, Melbourne, Victoria, Australia
  5. 5Monash University School of Public Health and Preventive Medicine, Melbourne, Victoria, Australia
  6. 6Department of Rheumatology, Alfred Health, Melbourne, Victoria, Australia
  1. Correspondence to Shruti Goradia; sgoradia{at}


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.

  • medical management
  • connective tissue disease
  • interstitial lung disease
  • adult intensive care

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  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: SG, SREB, YZL and SH. The following authors gave final approval of the manuscript: SG, SREB, YZL and SH.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.