Stark Ana, Hauptman Howard, Nguyen Binh, Mathew Minu, Aversano Alexander, Mueller Jerrica
Greater Baltimore Medical Center, Internal Medicine Residency, Towson, MD, USA.
Rheumatology, Greater Baltimore Medical Center, Baltimore, MD, USA.
J Community Hosp Intern Med Perspect. 2020 Sep 3;10(5):462-465. doi: 10.1080/20009666.2020.1793478.
The idiopathic inflammatory myopathies (IIM) are rare sporadic disorders with an overall annual incidence of approximately 1 in 100,000 and with a higher incidence in women. IIM is an autoimmune process leading to muscle inflammation due to a 'dysfunctional adaptive immune response evidenced by cell-mediated myocytoxicity, a high prevalence of autoantibodies and overexpression of Major Histocompatibility (MHC) I and II molecules on the muscle sarcolemma'. These autoimmune processes can be appreciated as inflammatory infiltrates in muscle biopsies. Common clinical findings in patients diagnosed with IIM include proximal muscle weakness, elevated creatinine kinase levels, circulating autoantibodies, radiological findings of muscular inflammation, and sometimes edema; in some patients, systemic symptoms such as dysphagia can also be present. Currently, there is no specific IIM classification scheme that incorporates all IIM subtypes; however, the four major IIM subtypes include dermatomyositis, polymyositis, inclusion body myositis, and immune-mediated necrotizing myopathy (IMNM). Two clinical cases are presented in this case report to illustrate a smoldering IIM, antisynthetase syndrome, and a more progressive IIM, anti-signal recognition particle IMNM; highlight the utility of the myositis-specific autoantibody panel for early diagnosis, targeted therapy, and prognosis; and offer primary care providers clues to IIM diagnosis.
特发性炎性肌病(IIM)是罕见的散发性疾病,总体年发病率约为十万分之一,女性发病率更高。IIM是一种自身免疫过程,由于“细胞介导的肌细胞毒性、自身抗体的高患病率以及主要组织相容性(MHC)I和II分子在肌纤维膜上的过度表达所证明的功能失调的适应性免疫反应”导致肌肉炎症。这些自身免疫过程在肌肉活检中可表现为炎性浸润。诊断为IIM的患者常见的临床发现包括近端肌无力、肌酸激酶水平升高、循环自身抗体、肌肉炎症的影像学表现,有时还伴有水肿;在一些患者中,还可能出现吞咽困难等全身症状。目前,尚无纳入所有IIM亚型的特定分类方案;然而,IIM的四个主要亚型包括皮肌炎、多发性肌炎、包涵体肌炎和免疫介导的坏死性肌病(IMNM)。本病例报告展示了两个临床病例,以说明隐匿性IIM、抗合成酶综合征以及进展性更强的IIM,即抗信号识别颗粒IMNM;强调肌炎特异性自身抗体检测对早期诊断、靶向治疗和预后的作用;并为初级保健提供者提供IIM诊断线索。