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

AENEAS collaborative group, L. Cavagna, F. Meloni, A. Meyer, G. Sambataro, M. Belliato, E. De Langhe, I. Cavazzana, N. Pipitone, K. Triantafyllias, M. Mosca, S. Barsotti, G. Zampogna, A. Biglia, G. Emmi, M. de Visser, A. van der Kooi, P. Parronchi, S. Hirschi, J.A.P. da SilvaC.A. Scirè, F. Furini, M. Giannini, O.M. Gonzalez, L. Damian, Y. Piette, V. Smith, A. Mera-Varela, J. Bachiller-Corral, I.C. Rodriguez, A.M. Brandy-Garcia, F. Maurier, J. Perrin, J. Gonzalez-Moreno, U. Drott, C. Delbruck, A. Schwarting, E. Arrigoni, A. Pesci, G. Dei, G. Zanframundo, M. Cutolo, A. Santaniello, M.C. Monti, M.I.G. Perez, G. De Luca, G. Orsolini, M. Rossini, A. Valentini, V. Codullo, C. Montecucco

Research output: Contribution to journalArticlepeer-review

Abstract

Objective 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. Conclusion 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.

Original languageEnglish
Pages (from-to)274-283
Number of pages10
JournalClinical and Experimental Rheumatology
Volume40
Issue number2
DOIs
Publication statusPublished - 2022

Keywords

  • Autoantibodies
  • Dermatomyositis
  • Female
  • Humans
  • Interferon-Induced Helicase, IFIH1
  • Lung Diseases, Interstitial
  • Middle Aged
  • Prognosis
  • Retrospective Studies
  • autoantibody
  • interferon induced helicase C domain containing protein 1
  • complication
  • dermatomyositis
  • female
  • human
  • interstitial lung disease
  • middle aged
  • prognosis
  • retrospective study
  • idiopathic inflammatory myopathies
  • melanoma differentiation-associated protein 5 antibody
  • rapidly progressive interstitial lung diseases

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