title: Anti-MDA5 antibodies in a large Mediterranean population of adults with dermatomyositis.
abstract: A new myositis-specific autoantibody directed against melanoma differentiation-associated gene 5 (anti-MDA5) has been described in patients with dermatomyositis (DM). We report the clinical characteristics of patients with anti-MDA5 in a large Mediterranean cohort of DM patients from a single center, and analyze the feasibility of detecting this autoantibody in patient sera using new assays with commercially available recombinant MDA5. The study included 117 white adult patients with DM, 15 (13%) of them classified as clinically amyopathic dermatomyositis (CADM). Clinical manifestations were analyzed, with special focus on interstitial lung disease and its severity. Determination of anti-MDA5 antibodies was performed by a new ELISA and immunoblot technique. In sera, from 14 (12%) DM patients (8 CADM), MDA5 was recognized by ELISA, and confirmed by immunoblot. Eight of the 14 anti-MDA5-positive patients (57.14%) presented rapidly-progressive interstitial lung disease (RP-ILD) versus 3 of 103 anti-MDA5-negative patients (2.91%) (P < 0.05; OR: 44.4, 95% CI 9.3-212). The cumulative survival rate was significantly lower in anti-MDA5-positive patients than in the remainder of the series (P < 0.05). Patients with anti-MDA5-associated ILD presented significantly lower 70-month cumulative survival than antisynthetase-associated ILD patients. Among the cutaneous manifestations, only panniculitis was significantly associated with the presence of anti-MDA5 antibodies (P < 0.05; OR: 3.85, 95% CI 1.11-13.27). These findings support the reliability of using commercially available recombinant MDA5 for detecting anti-MDA5 antibodies and confirm the association of these antibodies with RP-ILD in a large series of Mediterranean patients with DM.
authors.affiliation: Internal Medicine Department, Vall D'Hebron General Hospital, Universitat Autonoma de Barcelona, Passeig Vall D'Hebron 119-129, 08035 Barcelona, Spain.
authors.forename: Moises
authors.identifier: 0000-0003-3222-2380
authors.initials: M
authors.lastname: Labrador-Horrillo
authors.affiliation: Immunology Department, Hospital de La Santa Creu I Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain.
authors.forename: Maria Angeles
authors.initials: MA
authors.lastname: Martinez
authors.affiliation: Internal Medicine Department, Vall D'Hebron General Hospital, Universitat Autonoma de Barcelona, Passeig Vall D'Hebron 119-129, 08035 Barcelona, Spain.
authors.forename: Albert
authors.identifier: 0000-0003-2823-9761
authors.initials: A
authors.lastname: Selva-O'Callaghan
authors.affiliation: Internal Medicine Department, Vall D'Hebron General Hospital, Universitat Autonoma de Barcelona, Passeig Vall D'Hebron 119-129, 08035 Barcelona, Spain.
authors.forename: Ernesto
authors.initials: E
authors.lastname: Trallero-Araguas
authors.affiliation: Internal Medicine Department, Vall D'Hebron General Hospital, Universitat Autonoma de Barcelona, Passeig Vall D'Hebron 119-129, 08035 Barcelona, Spain.
authors.forename: Eva
authors.initials: E
authors.lastname: Balada
authors.affiliation: Internal Medicine Department, Vall D'Hebron General Hospital, Universitat Autonoma de Barcelona, Passeig Vall D'Hebron 119-129, 08035 Barcelona, Spain.
authors.forename: Miquel
authors.initials: M
authors.lastname: Vilardell-Tarres
authors.affiliation: Immunology Department, Hospital de La Santa Creu I Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain.
authors.forename: Cándido
authors.initials: C
authors.lastname: Juárez
mesh_terms: D000328:Adult; D001323:Autoantibodies / Q000097:blood / Q000276:immunology*; D053487:DEAD-box RNA Helicases / Q000276:immunology*; D003882:Dermatomyositis / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology / Q000276:immunology*; D005260:Female; D006801:Humans; D000072640:Interferon-Induced Helicase, IFIH1; D017563:Lung Diseases, Interstitial / Q000150:complications; D008297:Male; D019083:Mediterranean Region; D008875:Middle Aged; D009369:Neoplasms / Q000150:complications; D015995:Prevalence; D016019:Survival Analysis
chemical_list: D001323:Autoantibodies; C452815:IFIH1 protein, human; D053487:DEAD-box RNA Helicases; D000072640:Interferon-Induced Helicase, IFIH1
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