Debrus Camille, Calmes Doriane, Von Frenckell Christian, Duysinx Bernard, Cataldo Didier, Corhay Jean-Louis, Louis Renaud, Guiot Julien
Service de Pneumologie, CHU Liège, Belgique.
Service de Rhumatologie, CHU Liège, Belgique.
Rev Med Liege. 2023 Jul;78(7-8):441-447.
Dermatomyositis is a rare disease of unknown etiology characterized by a severe inflammatory myopathy associated with a cutaneous syndrome. Dermatomyositis is associated with multisystemic disorders mostly represented by cardiac, pulmonary and articular involvements, which are particularly associated with a bad prognosis. We report a case of a 50-year-old patient suffering from dermatomyositis associated with an interstitial lung disease with a particularly fast and pejorative clinical evolution. The anti-Melanoma Differentiation-Associated gene 5 (anti-MDA5) antibodies are frequently associated with a severe and rapidly progressive lung disease without myositis named «amyopathic dermatomyositis». High blood levels of anti-MDA5 were found in our patient. Despite maximal immunosuppressive treatment and supportive care, he died 3 months after the diagnosis. Patients may present different antibodies that correspond to distinct clinical phenotypes of dermatomyositis. The anti-MDA5 is known to be a marker of clinically amyopathic dermatomyositis (CADM) associated with a rapidly progressive interstitial lung disease. Moreover, blood level of anti-MDA5 antibody predicts the response to treatment and survival in CADM.
皮肌炎是一种病因不明的罕见疾病，其特征为严重的炎症性肌病并伴有皮肤综合征。皮肌炎与多系统疾病相关，主要表现为心脏、肺部和关节受累，这些情况尤其与不良预后相关。我们报告一例50岁患有皮肌炎并伴有间质性肺病的患者，其临床病程进展特别迅速且预后不佳。抗黑色素瘤分化相关基因5（anti-MDA5）抗体常与一种无肌炎的严重且快速进展的肺病相关，称为“无肌病性皮肌炎”。我们的患者血液中抗MDA5水平很高。尽管进行了最大程度的免疫抑制治疗和支持治疗，但他在诊断后3个月死亡。患者可能会出现不同的抗体，这些抗体对应于皮肌炎的不同临床表型。已知抗MDA5是与快速进展的间质性肺病相关的临床无肌病性皮肌炎（CADM）的标志物。此外，抗MDA5抗体的血液水平可预测CADM的治疗反应和生存率。
