对血脂蛋白升高的级联查的有效性 (a),这是一个被诊断不足的家庭疾病
Maxim E Annink1, Emma S Janssen, Laurens F Reeskamp
1Department of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Current opinion in lipidology
|September 11, 2024
概括
家庭级联查有效地识别出患有高脂蛋白 (Lp) 的个体,这是遗传性心血管疾病风险因素. 这种方法在检测高Lp (a) 水平方面比机会性查更成功.
科学领域:
- 心血管医学 心血管医学
- 遗传学 遗传学是一种遗传学.
- 公共卫生 公共卫生
背景情况:
- 升高的脂蛋白 (Lp) 是心血管疾病的一个显著的遗传风险因素.
- 目前的临床实践缺乏足够的检测个体的升高Lp(a),阻碍有效的风险评估.
- 共识声明主张进行家族级联查,以改善提升Lp的识别.
研究的目的:
- 审查和综合当前关于家族级联查对升高Lp的有效性研究.
- 评估级联查作为一种策略,用于检测因高Lp (a) 导致心血管疾病的遗传风险的个体.
主要方法:
- 对Lp升高的级联查的最新研究进行系统审查.
- 对数据进行分析,将级查与机会性查进行比较,以检测Lp (a).
- 根据不同的Lp (a) 值和种群,对查所需人数 (NNS) 的检查.
主要成果:
- 与机会性查相比,级联查是一种优越的方法来识别患有升高Lp(a) 个体.
- 对于每两名进行查的一级亲属,大约会发现一个新的升高Lp(a) (≥125nmol/L) 的新病例.
- 选所需的数字 (NNS) 从1.3到2.9不等,表明高效率.
结论:
- 家庭级联查显示,它有望用于识别患有升高Lp的个体.
- 临床实施的挑战包括确定最佳的Lp(a) 值和考虑与种族相关的Lp(a) 变异性.
- 需要进一步的研究来完善级联查协议,并最大限度地提高其在心血管疾病风险管理中的临床效用.
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