应该做的事,不应该做的事,以及血栓友测试的细微差别
Thita Chiasakul1, Kenneth A Bauer2
1Center of Excellence in Translational Hematology, Division of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand.
Hematology. American Society of Hematology. Education Program
|December 9, 2023
概括
对静脉血栓塞栓症 (VTE) 的遗传检测往往对患者管理没有帮助. 本综述阐明了D-二聚体检测的实用性,并讨论了诊断遗传性血栓塞病 (如S和C蛋白缺乏症) 的挑战.
科学领域:
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
- 临床医学 临床医学
背景情况:
- 人们越来越了解静脉血栓塞栓症 (VTE) 的遗传和生物因素.
- 尽管识别了遗传性缺陷,但血栓过血症测试往往对静脉瘤治疗无用.
- 血液学家经常咨询患者之前进行了血栓友测试.
研究的目的:
- 审查血栓友病测试在管理VTE的临床实用性.
- 讨论D-二聚体测试在VTE复发风险分层中的作用.
- 突出诊断遗传性血栓塞病的挑战,包括蛋白质S和C缺乏症.
主要方法:
- 案例系列讨论.案例系列讨论.
- 关于VTE风险因素和诊断测试的当前文献的审查.
- 在特定患者群体中分析D-二聚合物的效用.
- 讨论蛋白质S和C缺乏症的诊断挑战.
主要成果:
- D-二聚体测试可以帮助年轻女性进行静脉瘤复发风险分层.
- 升高的VIII因子水平是最初VTE的风险因素,但不是复发的风险因素.
- 某些基因测试 (MTHFR,PAI-1) 具有很小的血栓形成风险,因此不应订购.
- 由于试验变异性和种群范围,诊断S蛋白缺乏症是复杂的.
- 罕见的蛋白C缺乏症可能会被功能测定遗漏.
结论:
- 遗传血栓性血栓症测试对静脉瘤治疗的临床效用有限.
- 在VTE风险评估中,D-二聚体测试具有特定的应用.
- 遗传性血栓塞的准确诊断需要仔细考虑测试特征和患者因素.
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