儿童3型血管性血友病单中心临床数据分析

Single center clinical data analysis of children with type 3 von Willebrand disease

目的 了解我国儿童3型血管性血友病诊治现状。方法 回顾性收集2009年至2021年于北京儿童医院血友病综合管理中心注册登记的3型vWD患儿基本信息,并在2022年4月通过电话询问、微信信息表格填报等方式了解这些患儿目前临床表现、治疗现状及生活质量数据。结果 我中心注册登记的3型vWD共29例,随访到可供分析病例20例。中位首次出血年龄为2.3(0.4~11.0)岁,诊断年龄为4.0(0.4~11.6)岁。中位年出血次数(Annual Bleeding Rate,ABR)为10(0~18):75%(15/20例)患儿以鼻出血为主要表现;关节出血为25.0%(5/20例),存在关节出血患者的FⅧ:C水平(2.2%,范围0.6%~3.4%)较无关节出血患者(8.0%,范围0.6%~9.9%)低(P=0.026)。接受预防治疗的患儿占20%(4/20例),接受按需治疗的占60%(12/20例),预防治疗组和按需治疗组中位ABR分别为3(0~12)和10(3~18),ISTH-BAT中位评分分别为2(0~7)和4(4~9)。16例完成“疾病家庭负担量表”中位分数为19 (6~31),其中经济负担最为严重。仅50%(8/16例)在校期间参加体育活动。结论 3型vWD患儿发病早,诊断存在延迟,治疗不规范,疾病家庭负担重,造成患儿生活质量明显下降。该现状亟待改善。

Objective To understand the status of diagnosis and treatment of children with type 3von Willebrand disease in our country.Methods Children with type 3 vWD who were registered in the Hemophilia Comprehensive Management Center of Beijing Children’s Hospital from 2009 to 2021 were included in this study.In April 2022,the clinical manifestations,treatment status and quality of life were collected through telephone inquiries and WeChat information forms.Results There were 29 patients of type 3 vWD in our center,and 20 patients were analysed.The median age of first bleeding was 2.3(0.4~11.0)years old,and the median age of diagnosis was 4.0(0.4~11.6)years old.The median annual Bleeding Rate(ABR)was 10(0~18).Epistaxis was the main manifestation in 75%(15/20)of patients and 25.0%(5/20)of the patients had joint bleeding.FⅧ:C(2.2%,range 0.6%~3.4%)in patients with joint bleeding was lower than that patients without joint bleeding(8.0%,range 0.6%~9.9%)(P=0.026).20%(4/20)of patients received prophylaxis,and 60%(12/20)of patients received on-demand treatment.The median ABR of prophylaxis group was 3(0~12)and on-demand treatment group was 10(3~18).The median ISTH-BAT scores were 2(0~7)and 4(4~9).There were 16 patients completed the Disease Family Burden Scale.The median score was 19(6~31).The financial burden was most severe.50%(8/16)of patients participated sports during school.Conclusion Children with type 3 VWD have early onset age,delayed diagnosis,and irregular treatment.The family burden of patients’diseases is heavy.The quality of life of the children decreased significantly.The current situation needs to be improved.