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Multicenter Study
. 2024 Jan 8:14:1319957.
doi: 10.3389/fimmu.2023.1319957. eCollection 2023.

Disease patterns and specific trajectories of anti-MDA5-related disease: a multicentre retrospective study of 70 adult patients

Hubert de Boysson  1 , Marie Cuchet  2 , Charles Cassius  3 , Pierre Cuchet  4 , Christian Agard  5 , Alexandra Audemard-Verger  6 , Sylvain Marchand-Adam  7 , Raphaëlla Cohen-Sors  8 , Laure Gallay  9 , Julie Graveleau  10 , Cécile Lesort  11 , Kim Ly  12 , Alain Meyer  13 , Grégoire Monseau  14 , Antoine Néel  5 , Bernard Bonnotte  15 , Laurent Pérard  16 , Nicolas Schleinitz  17 , Delphine Mariotte  18 , Brigitte Le Mauff  18 , Gwladys Bourdenet  19   20 , Wafa Masmoudi  21 , Samuel Deshayes  1 , Anaël Dumont  1 , Anne Dompmartin  2 , Diane Kottler  2 , Achille Aouba  1
Affiliations
Multicenter Study

Disease patterns and specific trajectories of anti-MDA5-related disease: a multicentre retrospective study of 70 adult patients

Hubert de Boysson et al. Front Immunol. .

Abstract

Introduction: This study aimed to provide an updated analysis of the different prognostic trajectories of patients with anti-melanoma differentiation-associated gene 5 (MDA5) antibodies.

Methods: Among a cohort of 70 patients, baseline characteristics and phenotypes, treatments and outcomes were analyzed. A Cox proportional hazards model was used to identify factors associated with poor outcomes, i.e., death or progressive disease at the last follow-up.

Results: Among the 70 patients, 45 were women, and 54 were Caucasian. A dermatologic involvement was observed in 58 (83%) patients, including 40 with MDA5 vasculopathy-related skin lesions. Muscular involvement was observed in 39 (56%) patients. Interstitial lung disease (ILD) was observed at baseline in 52 (74%) patients, including 23 (44%) who developed rapidly progressive (RP) ILD. Seven (10%) patients showed thromboembolic complications within the first weeks of diagnosis, and eight (11%) other patients developed a malignancy (4 before the diagnosis of anti-MDA5 disease). Poor outcomes were observed in 28 (40%) patients, including 13 (19%) deaths. Among the 23 patients with RP-ILD, 19 (79%) showed poor outcomes, including 12 (63%) who died. In multivariate analyses, RP-ILD (hazard ratio (HR), 95% CI: 8.24 [3.21-22], p<0.0001), the occurrence of thromboembolic events (HR: 5.22 [1.61-14.77], p=0.008) and the presence of any malignancy (HR: 19.73 [6.67-60], p<0.0001) were the three factors independently associated with poor outcomes.

Discussion: This new independent cohort confirms the presence of different clinical phenotypes of anti-MDA5 diseases at baseline and the poor prognosis associated with RP-ILD. Thromboembolic events and malignancies were also identified as prognostic factors.

Keywords: anti-MDA5 dermatomyositis; malignancy; prognosis; rapidly progressive interstitial lung disease; thromboembolic events.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer CB declared a shared parent affiliation with the author CC to the handling editor at the time of review.

Figures

Figure 1
Figure 1
Survival of patients with anti-MDA5 antibodies according to the 3 initial main phenotypes. Main phenotypes are predominant rapidly progressive interstitial lung disease, predominant cutaneoarticular presentation and predominant vascular-myositic presentation.
See this image and copyright information in PMC

Comment on

  • Different phenotypes in dermatomyositis associated with anti-MDA5 antibody: Study of 121 cases.
    Allenbach Y, Uzunhan Y, Toquet S, Leroux G, Gallay L, Marquet A, Meyer A, Guillaud C, Limal N, Gagnadoux F, Hervier B, Borie R, Deligny C, Terrier B, Berezne A, Audia S, Champtiaux N, Devilliers H, Voermans N, Diot E, Servettaz A, Marhadour T, Castelain V, Humbert S, Blanchard-Delaunay C, Tieulie N, Charles P, Gerin M, Mekinian A, Priou P, Meurice JC, Tazi A, Cottin V, Miyara M, Grange B, Israël-Biet D, Phin-Huynh S, Bron C, De Saint Martin L, Fabien N, Mariampillai K, Nunes H, Benveniste O; French Myositis Network. Allenbach Y, et al. Neurology. 2020 Jul 7;95(1):e70-e78. doi: 10.1212/WNL.0000000000009727. Epub 2020 Jun 2. Neurology. 2020. PMID: 32487712 Free PMC article.

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