成年人原发性噬血细胞综合征1例并文献复习

Adult primary hemophagocytic syndrome: report of 1 case and review of literature

目的探讨成年人原发性噬血细胞综合征(HPS)的临床特征及治疗效果。方法回顾性分析南方医科大学第三附属医院2017年7月收治的1例成年原发性HPS患者的资料,并复习相关文献。结果患者为53岁女性,既往无基础病史,以反复高热为主要表现,STXBP2(FHL5)突变阳性,根据噬血性淋巴组织细胞增多症(HLH)-2004标准诊断为HPS。给予HLH-2004方案治疗,效果良好,随访至2021年5月,总生存时间45个月。结论非典型原发性HPS及迟发性原发性HPS较罕见,临床症状较轻,仅以反复高热为表现,需尽快完善HPS基因突变检测以明确诊断、及早治疗。

Objective To investigate the clinical characteristics and therapeutic effect of adult primary hemophagocytic syndrome(HPS).Methods The clinical data of a patient with primary HPS in the Third Affiliated Hospital of Southern Medical University in July 2017 were retrospectively analyzed,and the related literature was reviewed.Results The patient was a 53-year-old female without history of basic disease,presenting as repeated high fever,with mutation of STXBP2(FHL5),and was diagnosed as HPS according to hemophagocytic lymphohistiocytosis(HLH)-2004 criteria.The patient was treated with HLH-2004 regimen,and the efficacy was good.The patient was followed up until May 2021,and the overall survival time was 45 months.Conclusions The atypical primary HPS and delayed primary HPS are rare,with mild clinical symptoms and only manifested by repeated high fever.Therefore,the gene mutations associated with HPS should be detected as soon as possible to confirm the diagnosis and to treat the disease early.