加强韩国家族高胆固醇血检测:一种有针对性的查方法,整合国家计划和遗传级联查
Jung-Ho Yang1,2, Kyung Hoon Cho1,3, Young Joon Hong1,3
1Chonnam National University Hospital Cardio-Cerebrovascular Center, Gwangju, Korea.
Korean circulation journal
|August 23, 2024
概括
韩国的一项新的查计划在8.4%的严重高胆固醇血症病例中发现了家族性高胆固醇血症 (FH). 将基因检测与健康查相结合,可以改善早期FH检测,降低心血管疾病的风险.
科学领域:
- 心血管医学 心血管医学
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
背景情况:
- 家庭性高胆固醇血症 (FH) 显著增加了由于低密度脂蛋白胆固醇 (LDL-C) 代谢受损的早发心血管疾病的风险.
- 广泛的FH低诊断源于有限的认识和遗传检测可访问性.
- 早期检测和干预对于管理FH和预防不良心血管事件至关重要.
研究的目的:
- 在韩国提出和评估针对家族高胆固醇血症 (FH) 的查计划.
- 将国家通用健康查计划 (GHSP) 与FH级别遗传查相结合.
- 增强早期FH检测并降低相关心血管风险.
主要方法:
- 来自2021年GHSP的LDL-C水平≥190 mg/dL的个体被确定为主要参与者.
- 使用下一代测序来检测FH关键相关基因 (PCSK9,APOB,LDLRAP1,LDLR) 中的致病突变.
- 桑格测序证实了阳性初级病例的亲属 (二级参与者) 的突变,随后进行了比较分析.
主要成果:
- 在8.4% (7/83) 的重症高胆固醇血症初级参与者中发现了致病突变.
- 在FH患者的亲属中,61.1%的病原突变检测呈阳性.
- 通过查识别的初级参与者中,病原性突变的患病率明显高于他们的亲属.
结论:
- 将现有的健康查计划与基因检测相结合,为早期FH检测提供了一种有效的策略.
- 这种综合模型可以显著改善FH的识别和管理,从而减轻心血管风险.
- 拟议的查方法有可能在国家一级采用,以对抗FH.
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