遗传性凝血因子V缺乏症临床分析  

Clinical analysis of hereditary coagulation factor V deficiency

作　　者：张勇[2] 赵京忠[3] 江倩[1] 江浩[1] 路瑾[1] 付海霞[1] 吕萌[1] 许兰平[1] 张晓辉[1] Zhang Yong;Zhao Jingzhong;ang Qian;Jiang Hao;Lu Jin;Fu Haixia;La Meng;Xu Lanping;Zhang Xiaohui(Department of Hematology,Peking University People＇s Hospital,Peking University Institute of Hematology,Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation,Beijing 100044,China)

机构地区：[1]北京大学人民医院血液科北京大学血液病研究所造血干细胞移植治疗血液病北京市重点实验室,100044 [2]首都医科大学附属北京潞河医院血液科 [3]北京大学人民医院检验科

出　　处：《中华医学杂志》2018年第36期2920-2924,共5页National Medical Journal of China

摘　　要：目的分析遗传性凝血因子V缺乏症（FVD）的临床特点。方法选取2013年2月至2018年1月就诊于北京大学人民医院血液科的遗传性FVD患者17例，回顾性分析其临床特点、实验室检查、治疗及转归情况。结果17例FVD患者中男9例，女8例，中位年龄36（1-72）岁；男性患者中位年龄39（1-72）岁，女性患者中位年龄33（8-56）岁，差异无统计学意义（P=0．793）。中位凝血酶原时间（PT）值和活化部分凝血活酶时间（APTT）值分别为21．0（13．0-39．6）s和54．6（38．2-121．2）s，血浆凝血因子V（FV）中位值为8．2％（0．9％-39．0％）。根据FV水平，轻度者13例（13／17），中度者3例（3／17），而重度者仅为1例（1／17）。5例（5／17）患者有出血表现，包括3例皮肤瘀斑，1例阴道出血，1例消化道出血。根据出血严重程度，有1例（1／17）患者为严重出血，其余4例（4／17）为轻度出血。结论遗传性FVD可无或有出血症状，PT和APTT延长，FV活性下降，无出血症状者可无需治疗，有出血者首选新鲜冰冻血浆，总体预后良好。Objective To analyze the clinical characteristics of hereditary coagulation factor V deficiency （F V D） and to improve the diagnosis and treatment ability of hereditary F V D. Methods A total of 17 patients with hereditary F V D admitted to the Department of Hematology, Peking University People＇s Hospital from February 2013 to January 2018 were selected, and their clinical characteristics, laboratory examination, treatment and prognosis were retrospectively analyzed. Results There were 9 males and 8 females patients with F V D, the median age was 36 （ 1 - 72 ） years. The median age of men was 39 （1 -72）years, and the median age of women was 33 （8 -56）years. There was no significant difference between them （ P = 0. 793 ）. The median prothrombin time （PT） and activated partial thromboplastin time （APTr） values were 21.0（13.0 - 39. 6） s and 54. 6（38.2 - 121.2） s, and the median level of plasma FV was 8.2% （0.9% -39% ）. Thirteen cases （13/17） were mild, 3 cases （3/17） were moderate, and only 1 case （1/17） was severe according to the F V level. Five cases （5/17） had bleeding, including 3 cases with skin ecchymosis, 1 case with vaginal bleeding, and 1 case with gastrointestinal bleeding. According to the severity of bleeding, 1 case （1/17） had severe bleeding, and the other 4 cases （4/17） were mild bleeding. Conclusions Patients with hereditary F V D either have or do not have bleeding symptoms, with prolonged PT and APTr and decreased plasma of F V activity. There is no need for treatment for those without bleeding symptoms. Fresh frozen plasma is the first choice for patients who have bleeding, and the overall prognosis is good.

关 键 词：遗传性 血液凝集障碍 因子V缺乏 预后 

分 类 号：R554[医药卫生—血液循环系统疾病]