Approach to Hemophagocytic Syndromes
Approach to Hemophagocytic Syndromes
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DOI：
10.1182/asheducation-2011.1.178
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发表时间：
2011-12-01
影响因子：
3
通讯作者：
Weitzman, Sheila
中科院分区：
文献类型：
--
作者：
Weitzman, Sheila
噬血细胞性淋巴组织细胞增多症 (HLH) 是一种潜在致命的过度炎症性疾病。它可能是由于细胞溶解分泌途径中重要的基因突变而导致穿孔素和颗粒酶诱导靶细胞凋亡而作为原发性（遗传）病症发生。原发性HLH分为家族性HLH（FHLH1-5），其中HLH是疾病的唯一表现，以及其他遗传原因，其中HLH是几种临床表现之一。相同的临床表现可能继发于感染性、风湿性、恶性或代谢性疾病。无论是原发性还是继发性，HLH 治疗都需要立即开始，以防止不可逆的组织损伤。当免疫系统开始损害宿主组织时（免疫病理学），将 HLH 视为过度炎症性疾病谱系的严重末端是有帮助的。因此，没有任何单一的临床特征可以单独诊断 HLH，在做出诊断时考虑整个临床表现非常重要。本文讨论了 HLH 的遗传背景、临床表现、诊断困境和有助于诊断的特征，并讨论了其治疗中的常见问题。
Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory condition. It may occur as a primary (genetic) condition due to mutations in genes important in the cytolytic secretory pathway that cause perforin and granzymes to induce apoptosis in target cells. Primary HLH is divided into familial HLH (FHLH1-5), in which HLH is the only manifestation of disease, and other genetic causes in which HLH is one of several clinical manifestations. The identical clinical findings may arise secondary to infectious, rheumatologic, malignant, or metabolic conditions. Whether primary or secondary, HLH therapy needs to be instituted promptly to prevent irreversible tissue damage. It is helpful to think of HLH as the severe end of the spectrum of hyperinflammatory disorders when the immune system starts to damage host tissues (immunopathology). Therefore, no single clinical feature alone is diagnostic for HLH, and it is important that the entire clinical presentation be considered in making the diagnosis. This article contains a discussion of the genetic background, clinical presentation, diagnostic dilemmas, and features that are helpful in making the diagnosis of HLH, along with a discussion of common problems in its management.