Different phenotypes in dermatomyositis associated with anti-MDA5 antibody
Yves Allenbach
(1)
,
Yurdagul Uzunhan
,
Ségolène Toquet
,
Gaëlle Leroux
,
Laure Gallay
,
Alicia Marquet
,
Alain Meyer
,
Constance Guillaud
,
Nicolas Limal
,
Frédéric Gagnadoux
,
Baptiste Hervier
,
Raphaël Borie
,
Christophe Deligny
(2)
,
Benjamin Terrier
,
Alice Berezne
,
Sylvain Audia
,
Nicolas Champtiaux
,
Hervé Devilliers
,
Nicol Voermans
,
Elizabeth Diot
,
Amélie Servettaz
(3, 4)
,
Thierry Marhadour
,
Vincent Castelain
,
Sébastien Humbert
,
Claire Blanchard-Delaunay
,
Nathalie Tieulie
,
Pierre Charles
,
Magdalena Gerin
,
Arsène Mekinian
,
Pascaline Priou
,
Jean Claude Meurice
,
Abdellatif Tazi
,
Vincent Cottin
,
Makoto Miyara
,
Benjamin Grange
,
Dominique Israël-Biet
,
Sophie Phin-Huynh
,
Camille Bron
(5)
,
Luc de Saint Martin
,
Nicole Fabien
,
Kubéraka Mariampillai
(1)
,
Hilario Nunes
,
Olivier Benveniste
(1)
1
Centre de recherche en Myologie – U974 SU-INSERM
2 EPICLIV - Université des Antilles, UFR Santé, EPICLIV
3 CHU Reims - Hôpital universitaire Robert Debré [Reims]
4 IRMAIC - Immuno-Régulation dans les Maladies Auto-Immunes Inflammatoires et le Cancer - EA 7509
5 UVSQ Santé - UFR Sciences de la santé Simone Veil
2 EPICLIV - Université des Antilles, UFR Santé, EPICLIV
3 CHU Reims - Hôpital universitaire Robert Debré [Reims]
4 IRMAIC - Immuno-Régulation dans les Maladies Auto-Immunes Inflammatoires et le Cancer - EA 7509
5 UVSQ Santé - UFR Sciences de la santé Simone Veil
Yves Allenbach
- Function : Author
- PersonId : 977142
- IdHAL : yves-allenbach
- ORCID : 0000-0002-3185-7993
- IdRef : 160377293
Yurdagul Uzunhan
- Function : Author
- PersonId : 770334
- ORCID : 0000-0002-1607-1407
- IdRef : 093404778
Ségolène Toquet
- Function : Author
Gaëlle Leroux
- Function : Author
Laure Gallay
- Function : Author
- PersonId : 1267501
- ORCID : 0000-0002-7020-1954
- IdRef : 195497724
Alicia Marquet
- Function : Author
Alain Meyer
- Function : Author
Constance Guillaud
- Function : Author
Nicolas Limal
- Function : Author
Frédéric Gagnadoux
- Function : Author
- PersonId : 774353
- ORCID : 0000-0002-4231-5102
Baptiste Hervier
- Function : Author
Raphaël Borie
- Function : Author
- PersonId : 770718
- ORCID : 0000-0002-9906-0024
- IdRef : 081295626
Benjamin Terrier
- Function : Author
- PersonId : 762205
- ORCID : 0000-0001-6612-7336
- IdRef : 13141142X
Alice Berezne
- Function : Author
Sylvain Audia
- Function : Author
- PersonId : 763846
- IdHAL : sylvain-audia
- ORCID : 0000-0003-1772-1392
- IdRef : 128667648
Nicolas Champtiaux
- Function : Author
Hervé Devilliers
- Function : Author
- PersonId : 769552
- ORCID : 0000-0003-0679-1029
Nicol Voermans
- Function : Author
Elizabeth Diot
- Function : Author
Amélie Servettaz
- Function : Author
- PersonId : 794017
- ORCID : 0000-0001-5701-3863
Thierry Marhadour
- Function : Author
Vincent Castelain
- Function : Author
- PersonId : 760705
- ORCID : 0000-0002-9354-6525
Sébastien Humbert
- Function : Author
- PersonId : 775932
- ORCID : 0000-0003-0454-0840
Claire Blanchard-Delaunay
- Function : Author
Nathalie Tieulie
- Function : Author
Pierre Charles
- Function : Author
Magdalena Gerin
- Function : Author
Arsène Mekinian
- Function : Author
- PersonId : 818189
- ORCID : 0000-0003-2849-3049
- IdRef : 131898493
Pascaline Priou
- Function : Author
Jean Claude Meurice
- Function : Author
Abdellatif Tazi
- Function : Author
Vincent Cottin
- Function : Author
- PersonId : 784269
- ORCID : 0000-0002-5591-0955
- IdRef : 166774731
Makoto Miyara
- Function : Author
Benjamin Grange
- Function : Author
Dominique Israël-Biet
- Function : Author
Sophie Phin-Huynh
- Function : Author
Luc de Saint Martin
- Function : Author
Nicole Fabien
- Function : Author
Hilario Nunes
- Function : Author
Olivier Benveniste
- Function : Author
- PersonId : 1007551
- IdHAL : olivier-benveniste
- ORCID : 0000-0002-1167-5797
Abstract
Objectives The predominance of extramuscular manifestations (e.g., skin rash, arthralgia, interstitial lung disease [ILD]) as well as the low frequency of muscle signs in anti–melanoma differentiation-associated gene 5 antibody–positive (anti-MDA5+) dermatomyositis caused us to question the term myositis-specific antibody for the anti-MDA5 antibody, as well as the homogeneity of the disease. Methods To characterize the anti-MDA5+ phenotype, an unsupervised analysis was performed on anti-MDA5+ patients (n = 83/121) and compared to a group of patients with myositis without anti-MDA5 antibody (anti-MDA5−; n = 190/201) based on selected variables, collected retrospectively, without any missing data. Results Within anti-MDA5+ patients (n = 83), 3 subgroups were identified. One group (18.1%) corresponded to patients with a rapidly progressive ILD (93.3%; p < 0.0001 across all) and a very high mortality rate. The second subgroup (55.4%) corresponded to patients with pure dermato-rheumatologic symptoms (arthralgia; 82.6%; p < 0.01) and a good prognosis. The third corresponded to patients, mainly male (72.7%; p < 0.0001), with severe skin vasculopathy, frequent signs of myositis (proximal weakness: 68.2%; p < 0.0001), and an intermediate prognosis. Raynaud phenomenon, arthralgia/arthritis, and sex permit the cluster appurtenance (83.3% correct estimation). Nevertheless, an unsupervised analysis confirmed that anti-MDA5 antibody delineates an independent group of patients (e.g., dermatomyositis skin rash, skin ulcers, calcinosis, mechanic's hands, ILD, arthralgia/arthritis, and high mortality rate) distinct from anti-MDA5− patients with myositis. Conclusion Anti-MDA5+ patients have a systemic syndrome distinct from other patients with myositis. Three subgroups with different prognosis exist.