Gomez Roberta, Maakaron Joseph, Baiocchi Robert
Department of Medicine/Pediatrics, The Ohio State University, Columbus, OH 43210, USA.
Division of Hematology/Oncology, Department of Medicine, The Ohio State University, Columbus, OH 43210, USA.
J Hematol. 2019 Jun;8(2):68-70. doi: 10.14740/jh495. Epub 2019 Jun 30.
Macrophage activation syndrome (MAS) and hemophagocytic lymphohistiocytosis (HLH) are two overlapping, potentially fatal syndromes classified by disorganization and malfunction of the immune system that results in wide spread inflammation and end-organ damage. We present the case of a 22-year-old female with both underlying adult-onset still's disease and active Epstein-Barr virus (EVB) viremia who presented with criteria for MAS/HLH. She ultimately improved on an immunosuppressive regimen, and during follow-up was also found to be heterozygote carrier for a known genetic mutation that has been associated with "primary" HLH. This case thus highlights the clinical spectrum of HLH/MAS, the different treatment approaches, and the new investigations into the relationship between primary and secondary HLH.
巨噬细胞活化综合征（MAS）和噬血细胞性淋巴组织细胞增生症（HLH）是两种相互重叠、可能致命的综合征，其特征为免疫系统紊乱和功能异常，导致广泛炎症和终末器官损伤。我们报告一例22岁女性病例，该患者患有成人起病的斯蒂尔病且存在活动性EB病毒血症，同时出现了MAS/HLH的诊断标准。她最终在免疫抑制治疗方案下病情改善，随访期间还被发现是一种已知与“原发性”HLH相关基因突变的杂合子携带者。该病例因此凸显了HLH/MAS的临床谱、不同的治疗方法以及对原发性和继发性HLH之间关系的新研究。
