| Contributors: |
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. |
| Description: |
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. |