Bobirca Anca, Alexandru Cristina, Musetescu Anca Emanuela, Bobirca Florin, Florescu Anca Teodora, Constantin Magdalena, Tebeica Tiberiu, Florescu Alesandra, Isac Sebastian, Bojinca Mihai, Ancuta Ioan
Department of Internal Medicine and Rheumatology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Department of Internal Medicine and Rheumatology, "Dr. Ion Cantacuzino" Clinical Hospital, 011437 Bucharest, Romania.
Life (Basel). 2022 Jul 23;12(8):1108. doi: 10.3390/life12081108.
Clinically amyopathic Dermatomyositis (CADM) is a rare subtype of idiopathic inflammatory myositis, associated with no muscular manifestations, which is more frequent in Asian women. Anti-melanoma differentiation-associated gene 5 (MDA5) antibodies are a recently discovered type of specific autoantibodies associated with myositis. The anti-MDA5 DM was initially described in Japan and later it was discovered that the target antigen was a protein implicated in the innate immune response against viruses, that is encoded by the melanoma differentiation-associated gene 5. Anti-MDA5 DM is characteristically associated with distinguished mucocutaneus and systemic manifestations, including skin ulcerations, palmar papules, arthritis, and interstitial-lung disease. Patients with anti-MDA5 positivity have a high risk of developing rapid progressive interstitial-lung disease (RP-ILD), with a poor outcome. As a result, despite high mortality, diagnosis is often delayed, necessitating increased awareness of this possible condition. Despite a severe course of lung disease and an increased mortality rate, there is currently no standard treatment. Recent insights based on observational studies and case reports support combined therapy with immunosuppressive drugs and corticotherapy, as soon as the symptoms appear. The aim of this paper is to describe anti-MDA5 DM, focusing on the recent literature about the unique clinical manifestations and therapeutic options, starting from a severe clinical case diagnosed in our Rheumatology Department.
临床无肌病性皮肌炎（CADM）是特发性炎性肌病的一种罕见亚型，无肌肉表现，在亚洲女性中更为常见。抗黑色素瘤分化相关基因5（MDA5）抗体是最近发现的一种与肌炎相关的特异性自身抗体。抗MDA5皮肌炎最初在日本被描述，后来发现其靶抗原是一种参与针对病毒的固有免疫反应的蛋白质，由黑色素瘤分化相关基因5编码。抗MDA5皮肌炎的特征是伴有明显的皮肤和全身表现，包括皮肤溃疡、掌部丘疹、关节炎和间质性肺病。抗MDA5阳性的患者发生快速进展性间质性肺病（RP-ILD）的风险很高，预后较差。因此，尽管死亡率很高，但诊断往往延迟，需要提高对这种可能疾病的认识。尽管肺部疾病病程严重且死亡率增加，但目前尚无标准治疗方法。基于观察性研究和病例报告的最新见解支持一旦症状出现，就采用免疫抑制药物和皮质激素联合治疗。本文的目的是描述抗MDA5皮肌炎，从我们风湿科诊断的一例严重临床病例开始，重点关注有关独特临床表现和治疗选择的最新文献。
