Division of Haematology/Oncology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.
Expert Rev Clin Immunol. 2010 Jan;6(1):137-54. doi: 10.1586/eci.09.58.
Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory syndrome with prolonged high fever, hepatosplenomegaly and characteristic laboratory findings. HLH may be inherited (primary) or may be secondary to any severe infection, malignancy or rheumatologic condition. The last several years have witnessed an explosion in our understanding of HLH. Of the inherited causes for which the underlying genetic cause is known, most involve abnormalities of proteins important in the exocytosis cytolytic pathway, whereby perforin and granzymes are delivered to a target cell to induce apoptosis. The exact mechanisms underlying this process remain unclear. However, when a known genetic defect is not present, the diagnosis of HLH is still made on a constellation of clinical features and good clinical judgment. Rapid diagnosis is crucial, as early therapy with immunosuppressive agents and/or proapoptotic chemotherapy can be life-saving. This article examines recent advances in our understanding of the pathophysiology, clinical features, diagnosis, etiology and treatment of HLH, as well as the challenges that lie ahead.
噬血细胞性淋巴组织细胞增生症（HLH）是一种潜在致命的炎症过度活跃综合征，其特征为长期高热、肝脾肿大和特征性实验室发现。HLH 可能为遗传性（原发性），也可能继发于任何严重感染、恶性肿瘤或风湿性疾病。在过去的几年中，我们对 HLH 的认识有了突飞猛进的发展。在已知的遗传性病因中，大多数涉及到在细胞外溢细胞溶解途径中起重要作用的蛋白质的异常，其中穿孔素和颗粒酶被递送到靶细胞以诱导细胞凋亡。这一过程的确切机制仍不清楚。然而，当不存在已知的遗传缺陷时，HLH 的诊断仍然基于一系列临床特征和良好的临床判断。快速诊断至关重要，因为早期使用免疫抑制剂和/或促凋亡化疗可以挽救生命。本文探讨了我们对 HLH 的病理生理学、临床特征、诊断、病因和治疗的最新认识，以及未来的挑战。
