噬血细胞综合征77例临床分析

Analyses of 77 patients with hemophagocytic syndrome

目的 通过分析总结噬血细胞综合征（HPS）患者的临床及实验室特点,提高对该病的认识.方法 对象为北京大学人民医院2007至2014年收治的77例HPS患者,对77例患者的病因、临床表现、实验室特征、治疗及预后等进行分析.结果 77例患者男女比例相当,诊断HPS时年龄3个月～85岁.原发HPS 5例.继发HPS 72例,其中单纯感染28例,血液系统肿瘤25例,自身免疫病11例,另有8例病因未明.近一半HPS患者与自身免疫病或血液系统肿瘤同时诊断.临床上以高热（100％）、肝脾（81.8％）及淋巴结肿大（40.3％）为主要表现.实验室检查方面,以血细胞减少（94.8％）、铁蛋白升高（93.2％）为主,纤维蛋白原减低占61.8％,其中6例合并弥漫性血管内凝血（DIC）.高甘油三酯血症占一半以上.78.1％患者可在骨髓检查中见噬血细胞现象.自然杀伤细胞活性减低或缺失占95.2％,可溶性CD25抗原（sCD）升高所占比例为100％.其他脏器损害以肺部感染（36.4％）及肝损伤（33.3％）多见.约70％患者应用激素联合依托泊苷和（或）环孢素A治疗.8例自身免疫病患者应用激素冲击治疗（甲泼尼龙200 ～ 500 mg/d）.53例病情好转出院,14例死亡,10例因病情加重放弃治疗出院.此预后不良的24例中5例合并DIC,5例合并多脏器衰竭.血液系统肿瘤病死率最高（52.0％）,此后依次为单纯感染（25.0％）、自身免疫病（18.2％）.结论 自身免疫病和血液系统肿瘤在起病同时即可出现HPS表现,对可疑患者及时行相关实验室检查有助于早期明确诊断.合并DIC、多脏器受损的患者预后不良.

Objective To summarize the clinical features and laboratory data of 77 patients with hemophagocytic syndrome （HPS）.Methods A total of 77 patients of HPS were continuously collected from 2007 to 2014 at our hospital.Their underlying diseases,clinical features,laboratory data,therapy and prognosis were analyzed.Results Their The patients aged from 3 months to 85 years.The gender ratio was roughly equal.Primary HPS was diagnosed in only 5 cases by gene detection Another 72 cases belonged to secondary HPS.The causes were infection （n =28）,hematologic neoplasm （n =25）,autoimmune diseases （AID,n =11） and unknown （n =8）.HPS was the initial symptom in nearly half cases of hematologic neoplasm and AID.HPS was characterized by high fever （100%）,hypersplenomegaly （81.8%） and lymphadenopathy （40.3%）.Laboratory data showed cytopenia （94.8%）,serum ferritin elevation （93.2%）,hypofibrinogenemia （61.8%）,hemophagocytosis in bone marrow （78.1%） and hypertriglyceridemia （55.3%）.Low NK-cell activity （95.2%） and elevation of sCD25 （100%） were specific manifestations in HPS.Pulmonary infection （36.4%） and hepatic malfunction （33.3%） were common.Approximately 70% were treated with HLH-2004.Pulse-dose corticosteroid therapy （methylprdnisolone 200-500 mg/d） was used in 8 AID patients.And 14 patients died and 10 withdrew treatment because of exacerbation.Five had complications of DIC and another 5 progressed into MODS.Neoplasm （52.0%） had the highest mortality in secondary HPS.And infection （25.0%） and AID （18.2%） followed.Conclusion Sometimes HPS occurs simultaneously with autoimmune disease or neoplasm.Relevant laboratory tests for suspected patients may aid an early diagnosis.Presence of DIC or MODS in HPS is possibly correlated with a poor prognosis and a high mortality.