Iago Pinal-Fernandez1, Christopher A Mecoli2, Maria Casal-Dominguez2, Katherine Pak2, Yuji Hosono2, Julio Huapaya2, Wilson Huang2, Jemima Albayda2, Eleni Tiniakou2, Julie J Paik2, Cheilonda Johnson2, Sonye K Danoff2, Andrea M Corse2, Lisa Christopher-Stine2, Andrew L Mammen1. 1. From the Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Regulation (I.P.-F., M.C.-D., K.P., Y.H., W.H., A.L.M.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda; Departments of Neurology (I.P.-F., M.C.-D., A.M.C., L.C.-S., A.L.M.) and Medicine (C.A.M., J.A., E.T., J.J.P., S.K.D., L.C.-S., A.L.M.), Johns Hopkins University School of Medicine, Baltimore, MD; Faculty of Health Sciences (I.P.-F.), Universitat Oberta de Catalunya, Barcelona, Spain; Department of Medicine (J.H.), Medstar Georgetown University Hospital, Washington, DC; and Department of Medicine (C.J.), Hospital of the University of Pennsylvania, Philadelphia. andrew.mammen@nih.gov iago.pinalfernandez@nih.gov. 2. From the Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Regulation (I.P.-F., M.C.-D., K.P., Y.H., W.H., A.L.M.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda; Departments of Neurology (I.P.-F., M.C.-D., A.M.C., L.C.-S., A.L.M.) and Medicine (C.A.M., J.A., E.T., J.J.P., S.K.D., L.C.-S., A.L.M.), Johns Hopkins University School of Medicine, Baltimore, MD; Faculty of Health Sciences (I.P.-F.), Universitat Oberta de Catalunya, Barcelona, Spain; Department of Medicine (J.H.), Medstar Georgetown University Hospital, Washington, DC; and Department of Medicine (C.J.), Hospital of the University of Pennsylvania, Philadelphia.
Abstract
OBJECTIVE: To define the clinical phenotype of dermatomyositis (DM) with anti-Mi2 autoantibodies. METHODS: In this longitudinal cohort study, the prevalence and severity of clinical features at disease onset and during follow-up in patients with anti-Mi2-positive DM were compared to patients with anti-Mi2-negative DM, antisynthetase syndrome (AS), and immune-mediated necrotizing myopathy (IMNM). Longitudinal anti-Mi2 autoantibody titers were assessed. RESULTS: A total of 58 patients with anti-Mi2-positive DM, 143 patients with anti-Mi2-negative DM, 162 patients with AS, and 170 patients with IMNM were included. Among patients with anti-Mi2-positive DM, muscle weakness was present in 60% at disease onset and occurred in 98% during longitudinal follow-up; fewer patients with anti-Mi2-negative DM developed weakness (85%; p = 0.008). Patients with anti-Mi2-positive DM were weaker and had higher creatine kinase (CK) levels than patients with anti-Mi2-negative DM or patients with AS. Muscle biopsies from patients with anti-Mi2-positive DM had prominent necrosis. Anti-Mi2 autoantibody levels correlated with CK levels and strength (p < 0.001). With treatment, most patients with anti-Mi2-positive DM had improved strength and CK levels; among 10 with multiple serum samples collected over 4 or more years, anti-Mi2 autoantibody titers declined in all and normalized in 3, 2 of whom stopped immunosuppressant treatment and never relapsed. Patients with anti-Mi2-positive DM had less calcinosis (9% vs 28%; p = 0.003), interstitial lung disease (5% vs 16%; p = 0.04), and fever (7% vs 21%; p = 0.02) than did patients with anti-Mi2-negative DM. CONCLUSIONS: Patients with anti-Mi2-positive DM have more severe muscle disease than patients with anti-Mi2-negative DM or patients with AS. Anti-Mi2 autoantibody levels correlate with disease severity and may normalize in patients who enter remission.
OBJECTIVE: To define the clinical phenotype of dermatomyositis (DM) with anti-Mi2 autoantibodies. METHODS: In this longitudinal cohort study, the prevalence and severity of clinical features at disease onset and during follow-up in patients with anti-Mi2-positive DM were compared to patients with anti-Mi2-negative DM, antisynthetase syndrome (AS), and immune-mediated necrotizing myopathy (IMNM). Longitudinal anti-Mi2 autoantibody titers were assessed. RESULTS: A total of 58 patients with anti-Mi2-positive DM, 143 patients with anti-Mi2-negative DM, 162 patients with AS, and 170 patients with IMNM were included. Among patients with anti-Mi2-positive DM, muscle weakness was present in 60% at disease onset and occurred in 98% during longitudinal follow-up; fewer patients with anti-Mi2-negative DM developed weakness (85%; p = 0.008). Patients with anti-Mi2-positive DM were weaker and had higher creatine kinase (CK) levels than patients with anti-Mi2-negative DM or patients with AS. Muscle biopsies from patients with anti-Mi2-positive DM had prominent necrosis. Anti-Mi2 autoantibody levels correlated with CK levels and strength (p < 0.001). With treatment, most patients with anti-Mi2-positive DM had improved strength and CK levels; among 10 with multiple serum samples collected over 4 or more years, anti-Mi2 autoantibody titers declined in all and normalized in 3, 2 of whom stopped immunosuppressant treatment and never relapsed. Patients with anti-Mi2-positive DM had less calcinosis (9% vs 28%; p = 0.003), interstitial lung disease (5% vs 16%; p = 0.04), and fever (7% vs 21%; p = 0.02) than did patients with anti-Mi2-negative DM. CONCLUSIONS:Patients with anti-Mi2-positive DM have more severe muscle disease than patients with anti-Mi2-negative DM or patients with AS. Anti-Mi2 autoantibody levels correlate with disease severity and may normalize in patients who enter remission.
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