Different phenotypes in dermatomyositis associated with anti-MDA5 antibody: Study of 121 cases

Autor: Sophie Phin-Huynh, Alice Bérezné, Nicole Fabien, Luc de Saint Martin, Raphaël Borie, Sylvain Audia, Nicol C. Voermans, Benjamin Terrier, Nathalie Tieulie, Christophe Deligny, Gaëlle Leroux, Pierre Charles, Jean Claude Meurice, M. Gerin, Olivier Benveniste, Alain Meyer, Baptiste Hervier, Vincent Cottin, Constance Guillaud, Dominique Israel-Biet, Hilario Nunes, Claire Blanchard-Delaunay, Nicolas Champtiaux, Laure Gallay, Yves Allenbach, Arsène Mekinian, Ségolène Toquet, Pascaline Priou, Benjamin Grange, Makoto Miyara, Thierry Marhadour, Alicia Marquet, Sébastien Humbert, Vincent Castelain, Abdellatif Tazi, Hervé Devilliers, Nicolas Limal, Kuberaka Mariampillai, Elizabeth Diot, Frédéric Gagnadoux, Yurdagul Uzunhan, Amélie Servettaz, Camille Bron
Rok vydání: 2020
Předmět:
Adult
Lung Diseases
Male
medicine.medical_specialty
Interferon-Induced Helicase
IFIH1
Population
Disease
Gastroenterology
Autoantigens
Article
Dermatomyositis
03 medical and health sciences
All institutes and research themes of the Radboud University Medical Center
0302 clinical medicine
Internal medicine
Rheumatic Diseases
medicine
Humans
Vascular Diseases
education
Myositis
Autoantibodies
Retrospective Studies
030203 arthritis & rheumatology
education.field_of_study
biology
business.industry
Interstitial lung disease
Retrospective cohort study
Middle Aged
Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]
medicine.disease
Rash
3. Good health
Biological Variation
Population
biology.protein
Female
Neurology (clinical)
medicine.symptom
Antibody
business
030217 neurology & neurosurgery
Zdroj: Neurology, 95, E70-E78
Neurology
Neurology, 95, 1, pp. E70-E78
ISSN: 0028-3878
Popis: ObjectivesThe 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.MethodsTo 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.ResultsWithin 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.ConclusionAnti-MDA5+ patients have a systemic syndrome distinct from other patients with myositis. Three subgroups with different prognosis exist.
Databáze: OpenAIRE
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