罕见出血障碍中的表型和凝血因子活性水平之间的相关性:系统性审查
Behnaz Tavasoli1, Alireza Zangooie2,3, Seyed Mehrab Safdari4
1Department of Hematology and Blood Transfusion, School of Allied Medicine, Bushehr University of Medical Sciences, Bushehr, Iran.
Seminars in thrombosis and hemostasis
|December 5, 2024
概括
罕见的出血障碍 (RBD) 显示出凝血因子水平和出血严重程度之间的各种联系. 一项系统性审查发现纤维素素,FX和FXIII缺乏的相关性很强,但FV,FVII和FXI缺乏的联系很弱或不存在.
科学领域:
- 血液学 血液学 血液学
- 遗传学 遗传学 是一个
- 内部医学 内部医学
背景情况:
- 罕见的出血障碍 (RBDs) 占遗传出血病的3 - 5%,通常是自身遗传的.
- 在RBD中,出血严重程度是使用像ISTH-BAT这样的工具来评估的,但与因子水平的相关性是不一致的.
- 在血缘关系的人群中,RBD的患病率更高.
研究的目的:
- 在患有罕见出血障碍的患者中,系统地审查和分析凝血因子活性水平与出血严重程度之间的相关性.
- 为了提高对RBDs的基因型-表型关系的理解.
- 为改善RBD患者的管理策略提供信息.
主要方法:
- 按照PRISMA指导方针进行系统审查,在PROSPERO注册 (CRD42024504537).
- 使用PICO框架,专注于RBD患者.
- 在PubMed,Scopus和Web of Science中进行全面的文献搜索,直到2024年4月1日,提取出血严重程度,表型和因子活动水平的数据.
主要成果:
- 在不同RBD中观察到因子水平和出血严重程度之间的不一致的相关性.
- 对于纤维素素,FX和FXIII缺陷发现了中度至强度的相关性 (相关研究分别为66%,97%,100%).
- 针对FV,FVII和FXI缺陷的相关性较弱或不存在 (相关研究分别为76%,65%,93%).
结论:
- 在RBD中凝血因子活性和出血严重程度之间的关系是复杂的,因子特异的.
- 对于纤维素素,FX和FXIII缺乏,存在中度至强度的相关性.
- 需要使用标准化出血评估工具进行进一步的前性研究,以优化患者管理.
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