成人发作的斯蒂尔病(AOSD)是一种罕见的全身性炎症性疾病。诊断可能需要很长时间,特别是在存在混杂因素的情况下,它是,在某种程度上,一个排斥的过程。AOSD有威胁生命的并发症,从无症状到严重,如巨噬细胞活化综合征(MAS),也称为噬血细胞性淋巴组织细胞增多症(HLH)。这种情况与细胞因子风暴产生和单核细胞/巨噬细胞过度激活有关,通常发生皮疹。发热,全血细胞减少症,肝脾肿大和全身受累。大约10%的病例发生呕吐。对于MAS-HLH的治疗,组织细胞协会目前建议使用大剂量皮质类固醇,可能加入环孢菌素A,抗白细胞介素(IL)-1或IL-6生物药物;建议在最严重的情况下包含依托泊苷。在所有情况下,涉及几位专家的资源和专业知识的多学科合作(例如,风湿病专家,感染学家,建议重症监护医学专家)。在这里,我们提供了一个以前健康的年轻女性的临床病例的详细描述,其中MAS发展为AOSD的戏剧性发作表现,其诊断提出了真正的临床挑战;通过应用HLH-94方案(即,依托泊苷与地塞米松联合使用)。
Adult-onset Still\'s disease (AOSD) is a rare systemic inflammatory disorder. Diagnosis can take a long time, especially in the presence of confounding factors, and it is, to some extent, a process of exclusion. AOSD has life-threating complications ranging from asymptomatic to severe, such as macrophage activation syndrome (MAS), which is also referred to as hemophagocytic lymphohistocytosis (HLH). This condition is correlated with cytokine storm production and monocyte/macrophage overactivation and typically occurs with rash, pyrexia, pancytopenia, hepatosplenomegaly and systemic involvement. Exitus occurs in approximately 10% of cases. For the treatment of MAS-HLH, the Histiocyte Society currently suggests high-dose corticosteroids, with the possible addition of cyclosporine A, anti-interleukin (IL)-1, or IL-6 biological drugs; the inclusion of etoposide is recommended for the most severe conditions. In all cases, a multidisciplinary collaboration involving the resources and expertise of several specialists (e.g., rheumatologist, infectiologist, critical care medicine specialist) is advised. Herein, we provide a detailed description of the clinical
case of a previously healthy young woman in which MAS developed as a dramatic onset manifestation of AOSD and whose diagnosis posed a real clinical challenge; the condition was finally resolved by applying the HLH-94 protocol (i.e., etoposide in combination with dexamethasone).