Center for Advanced Metabolic Medicine and Nutrition, Av. Las Condes 9460, of 501. , Santiago, Chile.
Fundación Hipercolesterolemia Familiar, Madrid, Spain.
Curr Atheroscler Rep. 2022 Jun;24(6):427-434. doi: 10.1007/s11883-022-01019-5. Epub 2022 Apr 7.
Familial hypercholesterolemia is a high cardiovascular risk disorder. We will review the role of lipoprotein(a) in cardiovascular risk and in aortic valve stenosis in familial hypercholesterolemia, as well as its association with their phenotype, and strategies to identify this high-risk population.
Patients with familial hypercholesterolemia have higher lipoprotein(a) levels mainly due to an increased frequency of LPA variants, and the cardiovascular risk is increased twofolds when both conditions coexist. Also, an increased risk for aortic valve stenosis and valve replacement has been observed with high lipoprotein(a) levels. Assessment of lipoprotein(a) during the cascade screening for familial hypercholesterolemia is a good opportunity to identify this high-risk population. High cardiovascular risk in familial hypercholesterolemia is increased even more when lipoprotein(a) is also elevated. Measurement of lipoprotein(a) in these patients is crucial to identify those subjects who need to intensify LDL-cholesterol reduction pending availability of lipoprotein(a)-specific treatments.
家族性高胆固醇血症是一种心血管疾病高危疾病。我们将综述脂蛋白(a)在家族性高胆固醇血症患者的心血管风险和主动脉瓣狭窄中的作用，及其与表型的相关性，以及确定高危人群的策略。
家族性高胆固醇血症患者的脂蛋白(a)水平较高，主要是由于 LPA 变异体的发生频率增加，如果两种情况同时存在，心血管风险会增加两倍。此外，脂蛋白(a)水平升高与主动脉瓣狭窄和瓣膜置换的风险增加有关。在家族性高胆固醇血症的级联筛查中评估脂蛋白(a)是识别高危人群的一个好机会。当脂蛋白(a)也升高时，家族性高胆固醇血症的心血管高危风险会进一步增加。在这些患者中测量脂蛋白(a)对于确定需要加强 LDL-胆固醇降低的患者至关重要，等待脂蛋白(a)特异性治疗的出现。
