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冠状动脉无事件或弹性家族性高胆固醇血症:名字有什么意思?

Seyed Saeed Tamehri Zadeh¹, Dick C Chan¹, Pedro Mata²

¹Medical School, University of Western Australia, Perth, Australia.

Current opinion in endocrinology, diabetes, and obesity

|July 5, 2024

概括

一些患有家族性高胆固醇血症 (FH) 的人表现出弹性,尽管LDL-C高,但仍然没有动脉样性心血管疾病 (ASCVD).识别这些弹性FH患者可以改善心血管疾病的风险分层和预防策略.

科学领域:

心血管医学心血管医学
遗传学是一个遗传学.
代谢障碍代谢障碍代谢障碍

背景情况:

家族性高胆固醇血症 (FH) 是一种自体半主导性疾病,从出生开始就导致高LDL-C,加速动脉样硬化心血管疾病 (ASCVD).
虽然高的LDL-C是异合性FH (HeFH) 中ASCVD的主要驱动因素,但疾病进展的变化表明其他修饰因素.
最近的研究已经确定了一种"弹性FH"表型在HeFH患者中,这些患者仍然没有ASCVD事件.

研究的目的:

审查最近关于性FH患者特征的证据.
了解导致ASCVD在HeFH个体子集中缺少ASCVD的因素.
探索弹性FH对风险分层和预防策略的影响.

主要方法:

关于弹性FH的最近证据的文献综述.
对耐性与非耐性FH患者的临床特征,并发症和脂质特征的分析.
检查基因表达数据与HDL代谢和弹性FH的免疫反应相关的数据.

主要成果:

弹性FH患者更有可能是女性,ASCVD并发症较少,HDL-C较高,HDL颗粒较大,脂蛋白较低.
一个较低的SAFEHEART风险得分独立地预测了弹性FH.
基因表达研究表明,在弹性FH中,有较低的动性特征,ABCA1/ABCG1表达率较高,STAT2/STAT3表达率较低.

结论:

一个不同的HeFH患者群体,称为弹性FH,可以在没有ASCVD事件的情况下达到晚年.
已经确定了导致HeFH无事件CAD的关键因素.
了解弹性FH可以提高FH的风险分层和管理,并为一般人群的初级/二级预防提供信息,尽管需要进一步的研究.

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