抗 MDA5 抗体相关皮肌炎的不同表型：121 例研究。
Different phenotypes in dermatomyositis associated with anti-MDA5 antibody: Study of 121 cases.
机构信息
From the Departments of Clinical Immunology and Internal Medicine (Y.A., S.T., G.L., B.H., N.C., K.M., O.B.), Immunobiology (M.M.), and Biostatistics, Public Health, and Medical Information (B.G.), Pitié-Salpêtrière Hospital, APHP, Sorbonne Universities; Myology Research Centre (Y.A., O.B.), INSERM, UMRS 974, Paris; Department of Pneumology (Y.U., H.N.), APHP, Avicenne Hospital, INSERM U1272, Université Sorbonne Paris Nord, Bobigny; Department of Internal Medicine (L.G., A. Marquet), Lyon Sud Hospital, Lyon Sud University, Paris; Reference Centre for Rare Autoimmune Diseases (A. Meyer) and Medical Intensive Care Unit, Hautepierre Hospital (V. Castelain), Hôpitaux Universitaires de Strasbourg, Strasbourg University; Division of Pneumology (R.B.), Bichat Hospital, AP-HP, Paris-Diderot University, Paris; Department of Pneumology (F.G., P.P.), Centre Hospitalier Universitaire, Angers University; Department of Internal Medicine Infectieuses (C.D.), CHU de Martinique, Fort de France; Departments of Internal Medicine and Clinical Immunology (S.A.) and Internal Medicine and Systemic Diseases (H.D.), François-Mitterrand University Hospital, University of Bourgogne-Franche-Comté, Dijon; Internal Medicine Department (B.T., A.B.), Cochin Hospital, AP-HP, René Descartes University, Paris; Department of Internal Medicine (C.G., N.L.), Henri Mondor Hospital, Paris Est Créteil University, Créteil, France; Department of Neurology (N.V.), Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Internal Medicine (E.D.), Hôpital Bretonneau Tours, Tours University; Internal Medicine Department (A.S.), Hôpital Robert-Debré, Reims University; Departments of Rheumatology (T.M.) and Internal Medicine (L.D.S.M.), Bretagne Occidentale University, Centre Hospitalo-Universitaire de Brest; Department of Internal Medicine (S.H.), CHU de Besançon; Department of Internal Medicine (C.B.-D.), Centre Hospitalier Général de Niort; Department of Internal Medicine (N.T.), Nice University, CHU Nice; Department of Internal Medicine (P.C.), Institut Mutualiste Montsouris, Paris; Department of Internal Medicine (M.G.), Jean Verdier Hospital, Paris Seine-Saint-Denis University, Bondy; Department of Internal Medicine (A. Mekinian), Saint Antoine Hospital, APHP, Sorbonne Universities, Paris; Department of Pneumology CHU (J.C.M.), Poitiers University; Department of Pneumology (A.T.), Hôpital Saint-Louis, APHP, Sorbonne Paris Cité, University Paris-Diderot, Paris; Department of Respiratory Medicine (V. Cottin), National Reference Center for Rare Pulmonary Diseases, Hospices Civils de Lyon, Claude Bernard University Lyon 1, Lyon University; Department of Pneumology (D.I.-B.), European George Pompidou Hospital, APHP, Paris V University; Department of Pneumology (S.P.-H.), Sainte-Camille Hospital, Bry-sur-Marne; Department of Pneumology (C.B.), Foch Hospital, Saint Quentin en Yveline University, Suresnes; and Department of Immunology (N.F.), Lyon-Sud Hospital, Hospices Civils-de-Lyon, Pierre-Bénite, France.
出版信息
Neurology. 2020 Jul 7;95(1):e70-e78. doi: 10.1212/WNL.0000000000009727. Epub 2020 Jun 2.
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%; < 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%; < 0.01) and a good prognosis. The third corresponded to patients, mainly male (72.7%; < 0.0001), with severe skin vasculopathy, frequent signs of myositis (proximal weakness: 68.2%; < 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.
目的
抗黑色素瘤分化相关基因 5 抗体阳性（抗 MDA5+）皮肌炎中肌肉外表现（如皮疹、关节炎、间质性肺病[ILD]）较为常见，肌肉表现较少，这使我们对 MDA5 抗体的肌炎特异性抗体这一术语以及疾病的同质性产生了质疑。
方法
为了描述抗 MDA5+患者的表型，我们对 83/121 例抗 MDA5+患者进行了无监督分析，并与一组无抗 MDA5 抗体的肌炎患者（抗 MDA5-；n=190/201）进行了比较，所选变量均为回顾性收集，无任何缺失数据。
结果
在抗 MDA5+患者（n=83）中，确定了 3 个亚组。一组（18.1%）对应于ILD 迅速进展的患者（93.3%；所有患者均<0.0001），死亡率非常高。第二组（55.4%）对应于仅有皮肌炎症状的患者（关节炎；82.6%；<0.01），预后良好。第三组对应于主要为男性（72.7%；<0.0001）的患者，有严重的皮肤血管病变，常伴有肌炎表现（近端肌无力：68.2%；<0.0001），预后中等。雷诺现象、关节炎/关节痛和性别可用于确定聚类归属（83.3%的正确估计）。然而，无监督分析证实抗 MDA5 抗体可划出一个与抗 MDA5-肌炎患者不同的独立患者群体（如皮肌炎皮疹、皮肤溃疡、钙质沉着、技工手、ILD、关节炎/关节痛和高死亡率）。
结论
抗 MDA5+患者的系统性综合征与其他肌炎患者不同。存在预后不同的 3 个亚组。
Zotero 插件