Division of Hematology/Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229-3039, USA.
Hematology Am Soc Hematol Educ Program. 2009:127-31. doi: 10.1182/asheducation-2009.1.127.
Hemophagocytic lymphohistiocytosis (HLH), which has many genetic causes, is characterized by multi-system inflammation. HLH is a reactive process resulting from prolonged and excessive activation of antigen presenting cells (macrophages, histiocytes) and CD8(+) T cells. Hemophagocytosis, which is mediated through the CD163 heme-scavenging receptor, is a hallmark of activated macrophages/histiocytes and is the characteristic finding for which the disorder was named. The majority of genetic causes identified to date affect the cytotoxic function of NK and T cells, crippling immunologic mechanisms that mediate natural immune contraction. The predominant clinical findings of HLH are fevers (often hectic and persistent), cytopenias, hepatitis and splenomegaly. Due to the life-threatening implications of the diagnosis of genetically determined HLH, antiinflammatory therapy, often consisting of steroids, etoposide or antithymocyte globulin (ATG), should be instituted promptly, followed by curative hematopoietic cell transplantation. Secondary HLH, associated with autoimmune disorders or viral infections in teens and adults, also carries a significant mortality rate and should be managed in consultation with specialists familiar with the diagnosis and treatment of such disorders.
噬血细胞性淋巴组织细胞增生症（HLH）有许多遗传原因，其特征是多系统炎症。HLH 是一种反应性过程，是由于抗原呈递细胞（巨噬细胞、组织细胞）和 CD8+T 细胞的长期和过度激活引起的。通过 CD163 血红素清除受体介导的噬血细胞作用是活化的巨噬细胞/组织细胞的标志特征，也是该疾病因此得名的特征性发现。迄今为止确定的大多数遗传原因都影响 NK 和 T 细胞的细胞毒性功能，破坏了介导天然免疫收缩的免疫机制。HLH 的主要临床发现是发热（通常是高热和持续发热）、血细胞减少、肝炎和脾肿大。由于遗传性 HLH 的诊断具有威胁生命的意义，因此应立即开始抗炎治疗，通常包括类固醇、依托泊苷或抗胸腺细胞球蛋白（ATG），然后进行治愈性造血细胞移植。与青少年和成人自身免疫性疾病或病毒感染相关的继发性 HLH 也具有很高的死亡率，应与熟悉此类疾病诊断和治疗的专家协商进行管理。
