To evaluate experience in a tertiary rheumatology service with melanoma differentiation-association-protein-5 (MDA5) disease and testing, patients with positive autoantibody results were reviewed for the presence of clinical disease. Anti-MDA5 positivity was detected in 2% of myositis-specific antibody tests. Of these, 29% did not have features consistent with anti-MDA5 disease. However, when present, MDA5 disease is severe with a high mortality.
Keywords: MDA5 disease; dermatomyositis; interstitial lung disease; rapidly progressive ILD; tofacitinib.
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