Karras A, Hermine O
Service de néphrologie et de transplantation rénale, hôpital Saint-Louis, 1, avenue Claude-Vellefaux, 75010 Paris, France.
Rev Med Interne. 2002 Sep;23(9):768-78. doi: 10.1016/s0248-8663(02)00673-2.
Hemophagocytic syndrome results from a inappropriate stimulation of macrophages in bone marrow and lymphoid organs, leading to phagocytosis of blood cells and production of high amounts of pro-inflammatory cytokines. This life-threatening disease combines non-specific clinical signs (fever, cachexia, hepatomegaly, enlargement of spleen and lymph nodes) as well as typical laboratory findings (bi- or pancytopenia, abnormal hepatic tests, hypofibrinemia, elevation of serum LDH, ferritinemia and triglyceride levels). Diagnosis is confirmed by cytological or pathological examination of bone marrow or tissue specimens. Hemophagocytosis may be primitive, essentially in pediatric population, or secondary, related to various situations such as lymphomas, infections (viral, bacterial or parasitic) or auto-immune diseases. Prognosis is poor, depending on the associated disease, with an overall mortality of 50%.
Recent advances, essentially due to genetic studies of familial hemophagocytic syndrome, have underlined the major role of T lymphocytes and TNF alpha in the pathogenesis of hemophagocytosis. In these pediatric cases, prognosis has dramatically improved since allogenic bone marrow transplantation is performed, raising long-term survival from 10 to 66%.
In secondary forms of hemophagocytic syndrome, treatment must be symptomatic (transfusion, correction of electrolyte disorders) and etiological (chemotherapy, anti-viral or antibiotic drugs, immunosuppressive therapy). However, prospective trials are necessary to define the best treatment in these cases. New therapeutic options, targeting specific mediators, including TNF alpha, may emerge with the understanding of pathogenesis of hemophagocytic syndrome.
噬血细胞综合征是由于骨髓和淋巴器官中巨噬细胞受到不适当刺激，导致血细胞被吞噬并产生大量促炎细胞因子。这种危及生命的疾病兼具非特异性临床体征（发热、恶病质、肝肿大、脾肿大和淋巴结肿大）以及典型的实验室检查结果（全血细胞减少或两系血细胞减少、肝功能检查异常、纤维蛋白原血症、血清乳酸脱氢酶升高、铁蛋白血症和甘油三酯水平升高）。通过骨髓或组织标本的细胞学或病理学检查确诊。噬血细胞现象可能是原发性的，主要见于儿童群体，也可能是继发性的，与多种情况相关，如淋巴瘤、感染（病毒、细菌或寄生虫感染）或自身免疫性疾病。预后较差，取决于相关疾病，总体死亡率为50%。
近期进展，主要归因于对家族性噬血细胞综合征的基因研究，突显了T淋巴细胞和肿瘤坏死因子α在噬血细胞发病机制中的主要作用。在这些儿科病例中，自进行异基因骨髓移植以来，预后显著改善，长期生存率从10%提高到66%。
在继发性噬血细胞综合征中，治疗必须是对症治疗（输血、纠正电解质紊乱）和病因治疗（化疗、抗病毒或抗生素药物、免疫抑制治疗）。然而，需要进行前瞻性试验以确定这些病例的最佳治疗方法。随着对噬血细胞综合征发病机制的深入了解，可能会出现针对包括肿瘤坏死因子α在内的特定介质的新治疗选择。
