遗传性凝血因子Ⅹ缺乏症11例回顾性研究

Congenital factor X deficiency:a retrospective analysis of 11 cases

目的探讨遗传性凝血因子Ⅹ(FⅩ)缺乏症的临床特征、实验室检查、诊断、治疗及转归。方法回顾性分析2009年7月至2021年2月期间就诊于中国医学科学院血液病医院的11例遗传性FⅩ缺乏症患者的临床资料。结果11例患者中,男3例,女8例,中位初诊年龄39(5~55)岁。1例有家族史。10例(90.9%)存在出血事件,包括皮肤磕碰后瘀斑或出血(7例)、鼻出血(7例)、齿龈出血(6例)和肌肉血肿(1例)。8例女性患者中,6例有月经增多,1例正常分娩后发生出血。8例患者有手术史,4例发生术后出血。实验室检查见活化部分凝血活酶时间(APTT)延长、凝血酶原时间(PT)延长、FⅩ促凝活性(FⅩ∶C)减低。4例患者接受F10基因检测,发现5个新突变位点。11例患者中,4例输注凝血酶原复合物浓缩物(PCC),7例输注新鲜冰冻血浆(FFP),1例女性患者应用PCC预防性治疗后月经量明显减少,另有1例患者手术前预防性输注FFP后未发生术中、术后出血。结论多数遗传性FⅩ缺乏症患者有出血倾向,F10基因突变检测对疾病的诊断和预后判断具有一定意义。

Objective To analyze the clinical characteristics,laboratory examination,diagnosis,treatment,and outcome of hereditary factorⅩ(FⅩ)deficiency.Methods Clinical data of 11 patients with congenital FⅩdeficiency were retrospectively analyzed from July 2009 to February 2021.Results There were 3 males and 8 females.Median age was 39(5-55)years.The media duration of follow-up was 81.67(1.87-142.73)months.Of the 11 patients,10 had bleeding symptoms,7 had ecchymosis or hemorrhage after skin bump,7 had nosebleed,6 had gingival hemorrhage,and 1 had muscle hematoma.Among the female patients,6 had menorrhagia and 1 experienced bleeding after vaginal delivery.Family history of FⅩdeficiency was found in one case.Eight patients had a history of surgery,and four had postoperative bleeding.Laboratory findings were characterized by significantly prolonged activated partial thromboplastin time,prothrombin time,and decreased FⅩactivity(FⅩ∶C).Four cases underwent gene mutation analysis and five new mutations were found.Four cases were treated with prothrombin complex concentrates(PCC)and seven cases with fresh frozen plasma(FFP).One female patient had significantly reduced menstrual volume after PCC prophylactic therapy.One patient received FFP for prophylactic infusion with no bleeding during and after the operation.Conclusion Most patients with congenital FⅩdeficiency had bleeding symptoms and there was no significant correlation between severity of bleeding symptoms and FⅩ∶C.Prophylaxis should be applied in patients with severe bleeding tendencies.Gene mutation test is significant for screening,diagnosis,and prognosis prediction of congenital FX deficiency.