基因型阳性家族高胆固醇血症的管理和后果
Catherine Spinks1,2,3,4, Margaret Sunitha Selvaraj2,3,5, Christopher Robinson6
1Division of Cardiology, Massachusetts General Hospital, Boston, Massachusetts.
JAMA cardiology
|March 4, 2026
概括
家族性高胆固醇血症 (FH) 影响0.35%的美国成年人,增加了动脉样硬化心血管疾病 (ASCVD) 的风险. 许多患有FH的患者无法达到脂质标,这凸显了需要改进管理的需要.
科学领域:
- 遗传学 是一个遗传学.
- 心脏病学 心脏病学
- 公共卫生 公共卫生
背景情况:
- 家族性高胆固醇血症 (FH) 是一种普遍存在的遗传疾病,导致胆固醇升高和早发性动脉样硬化心血管疾病 (ASCVD).
- 了解美国基因确诊的FH的患病率,管理和结果至关重要但有限.
研究的目的:
- 为了确定基因型阳性FH在美国国家队列中的流行率.
- 描述FH患者的人口特征,ASCVD后果以及降脂管理策略.
主要方法:
- 分析全基因组测序和来自"我们所有人" (AoU) 队列研究的表型数据 (n=245,388).
- 在LDLR,APOB和PCSK9基因中识别FH变异.
- 评估ASCVD事件,脂质水平和降脂疗法 (LLT) 的使用.
主要成果:
- 基因型阳性FH在0.35%的参与者中被发现 (287人中的1人).
- 与非携带者相比,患有FH的个体冠状动脉疾病,外周动脉疾病和中风的发病率明显较高.
- 只有30.1%的FH参与者达到LDL-C<100 mg/dL,而19.3%的人达到二次预防目标 (<70 mg/dL).
结论:
- 在美国"我们所有人"队列中,基因型阳性FH的患病率为0.35%,因州而异.
- 很大一部分患有FH的个人经历了ASCVD风险增加和低于最佳的LDL-C管理.
- 调查结果强调需要加强FH的查,诊断和治疗策略,以减轻心血管风险.
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