在患有高胆固醇的人群中,家族性高胆固醇血症变体和心血管风险
Yiyi Zhang1, Jacqueline S Dron2,3, Brandon K Bellows1
1Division of General Medicine, Columbia University, New York, New York.
JAMA cardiology
|January 31, 2024
概括
家庭性高胆固醇血症 (FH) 变体显著增加冠心病 (CHD) 的风险,即使LDL-C也适度高. 这种风险与累积的LDL-C暴露有关,突出显示了遗传因素对心血管健康的重要性.
科学领域:
- 心血管遗传学 心血管遗传学
- 脂质代谢 脂质代谢是什么
- 公共卫生 公共卫生
背景情况:
- 家族性高胆固醇血症 (FH) 是一种遗传性疾病,导致严重高的LDL-C和早发性冠状动脉心脏病 (CHD).
- 在中度升高的LDL-C的个体中,与FH变体相关的CHD风险尚不清楚.
研究的目的:
- 为了评估与FH变体相关的CHD风险,在中度和严重升高的LDL-C.个体中.
- 量化美国成年人中可归因于FH变体的多余心血管疾病死亡.
主要方法:
- 对6项美国队列研究进行了聚合分析,其中包括21426名没有先前存在心血管疾病的个人.
- 使用了考克斯的比例危险模型和心血管疾病政策模型.
- 从1971-2018年收集的数据,分析为2023年3月至5月.
主要成果:
- 在0.3%的中度升高的LDL-C和2.5%的严重升高的LDL-C的个体中发现了FH变体.
- 发生性心脏病的调整后危险比为2.9 (中度LDL-C) 和2.6 (严重LDL-C).
- 预计在美国成年人中,LDL-C≥130 mg/dL的CHD死亡人数将超过12,000人 (中度) 和15,000人 (严重).
结论:
- FH变体与心脏病风险增加2倍相关,即使LDL-C水平中等升高.
- 更高的累积LDL-C暴露在很大程度上解释了心脏病风险的增加.
- 需要进一步研究用于FH查的基因检测.
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