Clinical spectrum time course in non-Asian patients positive for anti-MDA5 antibodies

Cavagna L.;Meloni F.;Meyer A.;Sambataro G.;Belliato M.;De Langhe E.;Cavazzana I.;Pipitone N.;Triantafyllias K.;Mosca M.;Barsotti S.;Zampogna G.;Biglia A.;Emmi G.;De Visser M.;Van Der Kooi A.;Parronchi P.;Hirschi S.;da Silva J. A. P.;Scire C. A.;Furini F.;Giannini M.;Martinez Gonzalez O.;Damian L.;Piette Y.;Smith V.;Mera-Valera A.;Bachiller-Corral J.;Cabezas Rodriguez I.;Brandy-Garcia A. M.;Maurier F.;Perrin J.;Gonzalez-Moreno J.;Drott U.;Delbruck C.;Schwarting A.;Arrigoni E.;Sebastiani G. D.;Iuliano A.;Nannini C.;Quartuccio L.;Rodriguez Cambron A. B.;Blazquez Canamero M. A.;Villa Blanco I.;Cagnotto G.;Pesci A.;Luppi F.;Dei G.;Romero Bueno F. I.;Franceschini F.;Chiapparoli I.;Zanframundo G.;Lettieri S.;De Stefano L.;Cutolo M.;Mathieu A.;Piga M.;Prieto-Gonzalez S.;Moraes-Fontes M. F.;Fonseca J. E.;Jovani V.;Riccieri V.;Santaniello A.;Montfort S.;Bilocca D.;Erre G. L.;Bartoloni E.;Gerli R.;Monti M. C.;Lorenz H. M.;Sambataro D.;Bellando Randone S.;Schneider U.;Valenzuela C.;Lopez-Mejias R.;Cifrian J.;Mejia M.;Gonzalez Perez M. -I.;Wendel S.;Fornaro M.;De Luca G.;Orsolini G.;Rossini M.;Dieude P.;Knitza J.;Castaneda S.;Voll R. E.;Rojas-Serrano J.;Valentini A.;Vancheri C.;Matucci-Cerinic M.;Feist E.;Codullo V.;Iannone F.;Distler J. H.;Montecucco C.;Gonzalez-Gay M. A.

2022-01-01

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Abstract

OBJECTIVES: To define the clinical spectrum time-course and prognosis of non-Asian patients positive for anti-MDA5 antibodies. METHODS: We conducted a multicentre, international, retrospective cohort study. RESULTS: 149 anti-MDA5 positive patients (median onset age 53 years, median disease duration 18 months), mainly females (100, 67%), were included. Dermatomyositis (64, 43%) and amyopathic dermatomyositis (47, 31%), were the main diagnosis; 15 patients (10%) were classified as interstitial pneumonia with autoimmune features (IPAF) and 7 (5%) as rheumatoid arthritis. The main clinical findings observed were myositis (84, 56%), interstitial lung disease (ILD) (108, 78%), skin lesions (111, 74%), and arthritis (76, 51%). The onset of these manifestations was not concomitant in 74 cases (50%). Of note, 32 (21.5%) patients were admitted to the intensive care unit for rapidly progressive-ILD, which occurred in median 2 months from lung involvement detection, in the majority of cases (28, 19%) despite previous immunosuppressive treatment. One-third of patients (47, 32% each) was ANA and anti-ENA antibodies negative and a similar percentage was anti-Ro52 kDa antibodies positive. Non-specific interstitial pneumonia (65, 60%), organising pneumonia (23, 21%), and usual interstitial pneumonia-like pattern (14, 13%) were the main ILD patterns observed. Twenty-six patients died (17%), 19 (13%) had a rapidly progressive-ILD. CONCLUSIONS: The clinical spectrum of the anti-MDA5 antibodies-related disease is heterogeneous. Rapidly-progressive ILD deeply impacts the prognosis also in non-Asian patients, occurring early during the disease course. Anti-MDA5 antibody positivity should be considered even when baseline autoimmune screening is negative, anti-Ro52 kDa antibodies are positive, and radiology findings show a NSIP pattern.