在患有家族性高胆固醇血症的患者中,大动脉和动脉化
Małgorzata Waluś-Miarka1,2,3, Anna Polus4, Barbara Idzior-Waluś5
1Department of Metabolic Diseases, Jagiellonian University Medical College, Karków, Poland. m.walus-miarka@uj.edu.pl.
异卵性家族高胆固醇血症 (heFH) 增加了血管化的风险. 本综述探讨了化患病率,危险因素以及Wnt/β-catenin通路.
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:
- 异卵性家族性高胆固醇血症 (heFH) 是一种影响脂质代谢的遗传疾病,患病率为1:250-1:300.
- 如果不治疗,heFH患者面临着早发性冠状动脉疾病 (CAD) 的风险增加 (高达13倍),男性和女性分别在55岁和60岁之前患上CAD.
- 冠状动脉结石化 (CAC) 和大动脉结石化 (AoVC) 在heFH患者中更常见,并预测心血管事件.
研究的目的:
- 审查heFH患者中CAC和AoVC的流行情况.
- 为了确定与heFH的血管化相关的危险因素.
- 探索Wnt/β-catenin通路在FH相关的血管化中的作用.
主要方法:
- 临床研究和动物模型的文献综述.
- 分析有关患病率,风险因素和参与heFH血管化中的分子途径的数据.
- 检查LDL-R突变和Wnt/β-catenin信号传递的作用.
主要成果:
- 血管化,包括CAC和AoVC,在heFH患者中更为普遍.
- 危险因素包括年龄,高血性脂蛋白,Lp(a),高血压和炎症.
- Wnt/β-catenin通路和与LDL受体相关的蛋白质5和6 (LRP-5/6) 涉及到FH血管化.
结论:
- 了解heFH血管化的机制对于管理心血管风险至关重要.
- 对Wnt/β-catenin通路和其他调节剂的进一步研究可能会揭示治疗点.
- 本次审查强调了在FH管理策略中解决化的重要性.
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