Abstract
BACKGROUND: In idiopathic inflammatory myositis (IIM), anti-MDA5 (melanoma differentiation-associated gene 5) antibody-associated DM (MDA5 DM) is a distinct subset characterised by presentation with cutaneous involvement, association with ILD and delayed onset of muscle involvement which is believed to be not severe. OBJECTIVES: To study the clinical profile and treatment outcomes of MDA5 DM patients. METHODS: Records of patients fulfilling the ACR/EULAR classification criteria for IIM and testing positive for MDA5 antibody, were retrieved from the ongoingMyoIN registry database of our centre. Clinical, laboratory and treatment data were analysed. Follow-up details were noted. Parameters were compared between survivors and non-survivors using student's t-test or Mann-Whitney U tests for continuous variables and Chi square test and Fisher's exact for categorical variables. RESULTS: Eighteen patients (5 juvenile) were identified. Median age was 30(16-41) years and disease duration at time of diagnosis was 5.5 months with median follow up duration of 18 months (12-31). The prevalence of constitutional symptoms, cutaneous involvement, arthritis, and myositis were 94%, 100%, 78%, and 44% respectively. Ulcers were the most common cutaneous finding. Myositis when present was severe. Interstitial lung disease (ILD) was present in 6 patients which was rapidly progressive (RPILD) in 3. Anti-Ro-52 antibody (n=5) was the most common myositis associated antibody (MAA). There was no difference in the clinical profile of children and adults. Seven patients succumbed. RPILD was a predictor of mortality (p=0.04). Cutaneous relapses were common among survivors but responded well to further therapy. CONCLUSION: The MDA5 DM phenotype in this Indian cohort is characterised by fever, cutaneous ulcers and arthritis. RPILD was not uncommon and predicted mortality.