成人巨噬细胞活化综合征5例报告并文献复习

Adult MAS:report of 5 cases and review of literature

目的探讨巨噬细胞活化综合征(macrophage activation syndrome,MAS)的临床特征及诊治策略。方法收集2021年1月~10月于黑龙江省医院收治的5例成人MAS的临床资料,并复习相关文献资料。结果①临床特征:5例患者发病均有持续发热,4例伴有脾大,2例伴淋巴结肿大,无肝肿大;②实验室检查结果:5例患者中,4例患者出现贫血和血小板减少,3例骨髓可见噬血现象,5例可溶性IL-2受体(soluble CD25,sCD25)和血清铁蛋白升高,5例自然杀伤细胞活性均减低,2例高甘油三酯血症,1例低纤维蛋白原血症;③治疗及转归:例1应用甲强龙冲击、人血免疫球蛋白、依托泊苷、环孢素A方案治疗,达到完全缓解(complete remission,CR);例2应用甲强龙冲击、人血免疫球蛋白、依托泊苷(etoposide,VP-16)、环孢素A、血浆置换等治疗,病情逐渐缓解达到部分缓解(partial remission,PR),但1个月后再次复发,应用芦可替尼联合脂质体阿霉素+依托泊苷+甲强龙(DEP)方案治疗达到CR;例3主要给予应用甲强龙冲击、人血免疫球蛋白、VP-16、环孢素A治疗,达到PR;例4应用地塞米松、人血免疫球蛋白、VP-16治疗未缓解(non-remission,NR),1周内全身衰竭临床死亡;例5应用DEP方案达到PR,但并发耶氏肺孢子菌肺炎,终因呼吸衰竭死亡。结论MAS是一种少见且致命性疾病,属于多学科交叉性疾病,临床容易误诊。临床医生应加强对MAS的认识,及时诊断并规范治疗是降低死亡率的关键。

Objective To investigate the clinical features,diagnosis and treatment strategies of macrophage activation syndrome(MAS).Methods The clinical data of 5 cases of adult MAS in Heilongjiang Provincial Hospital from January 2021 to October 2021 were collected and related literatures were reviewed.Results①Clinical features:all 5 patients had persistent fever,4 with splenomegaly,2 with lymphadenopathy,and no hepatomegaly.②Results of laboratory examination:Among the 5 patients,4 cases had anemia and thrombocytopenia,3 cases had bone marrow hemophagy,5 cases had sCD25 and serum ferritin levels were increased,5 cases had natural killer(NK)cell activity was decreased,2 cases had hypertriglyceridemia(HTG),and 1 case had hypofibrinogen.③Treatment and outcome:Case 1 was treated with methylprednisolone,intravenous immunogloblin(IVIG),etoposide(VP-16)and cyclosporine A,which achieved complete remission(CR).Case 2 was treated with methylprednisolone,IVIG,VP-16,cyclosporine A and plasmapheresis.The disease gradually eased and reached partial remission(PR),but relapsed 1 month later.Rucotinib combined with DEP was used to achieve CR.Case 3 was treated with methylprednisolone,IVIG,VP-16 and cyclosporine A to achieve PR.Case 4 was non-remission(NR)after treatment with dexamethasone,IVIG,and VP-16,and died of systemic failure within 1 week.Case 5 achieved PR with DEP,but developed pneumocystis yersini pneumonia and died of respiratory failure.Conclusion MAS is a rare and fatal disease,which is multidisciplinary and easy to be misdiagnosed.As timely diagnosis of MAS and standardized treatment are key to reducing mortality,clinicians should improve their understanding of MAS.