成人噬血细胞综合征诊疗研究进展

Advances in diagnosis and treatment of adult hemophagocytic syndrome

作为临床较罕见且预后差的恶性血液病,噬血细胞综合征(HPS)亦被称为噬血细胞性淋巴组织细胞增生症(HLH),可分为原发性(遗传性)HLH和继发性(获得性)HLH两类,其特征为大量异常的免疫细胞持续激活与调节失控,进而导致全身性炎性因子风暴和多器官衰竭,临床表现主要为持续恶性高热、全血细胞减少、肝脾大和组织器官发生噬血现象等。成人HLH致病诱因复杂,起病急骤,病情进展迅速,病死率居高不下,多器官衰竭、出凝血异常及脓毒性休克是患者死亡的重要原因。由于疾病的特殊性以及临床实践中对病情严重性和预后判断缺乏有效认识,导致部分HLH患者被漏诊、误诊,继而错过最佳诊疗时机。本文针对成人HLH诊断与治疗的新进展进行系统性综述,旨在为HLH的临床诊疗、预后评估等提供借鉴与参考。

Hemophagocytic syndrome(HPS),also known as hemophagocytic lymphohistiocytosis(HLH),is a rare and highly malignant hematologic disease with a poor prognosis.It can be divided into two categories:primary HLH and secondary HLH.HLH is characterized by a large number of abnormal immune cells that continuously activate and regulate out of control,leading to systemic inflammatory factor storm and multiple organ failure.Clinical manifestations mainly include persistent malignant hyperthermia,pancytopenia,hepatosplenomegaly,and hemophagocytosis in tissues and organs.The pathogenesis of adult HLH is complex,with rapid onset and rapid disease progression,and the fatality rate remains high.The main causes of death in HLH patients are multiple organ failure,abnormal coagulation and septic shock.Due to the specificity of HLH and the lack of effective understanding of the severity and prognosis in clinical practice,some HLH patients are misdiagnosed or overlooked,missing the best opportunity for diagnosis and treatment.Therefore,this review systematically explores and discusses the latest diagnostic and treatment progress of adult HLH,aiming to provide reference for clinical diagnosis,treatment and prognosis assessment of HLH.