Bianconi Vanessa, Banach Maciej, Pirro Matteo
Unit of Internal Medicine, Department of Medicine, University of Perugia, Hospital "Santa Maria della Misericordia", Piazzale Menghini, 1, 06129 Perugia, Italy.
Department of Hypertension, Chair of Nephrology and Hypertension, WAM University Hospital in Lodz, Medical University of Lodz, Zeromskiego 113, 90-549 Lodz, Poland; Polish Mother's Memorial Hospital Research Institute (PMMHRI), Lodz, Poland.
Trends Cardiovasc Med. 2021 May;31(4):205-215. doi: 10.1016/j.tcm.2020.03.004. Epub 2020 Mar 12.
Familial hypercholesterolemia (FH) is a common genetic cause of elevated low-density lipoprotein cholesterol (LDL-C) due to defective clearance of circulating LDL particles. All FH patients are at high risk for premature cardiovascular disease (CVD) events due to their genetically determined lifelong exposure to high LDL-C levels. However, different rates of CVD events have been reported in FH patients, even among those with the same genetic mutations and comparable LDL-C levels. Hence, additional CVD risk modifiers, beyond LDL-C, may contribute to increase CVD risk in the FH population. In this review, we discuss the overall CVD risk burden of the FH population. Additionally, we revise the prognostic impact of several traditional and emerging predictors of CVD risk and we provide an overview of the role of specific tools to stratify CVD risk in FH patients in order to ensure them a more personalized treatment approach.
家族性高胆固醇血症（FH）是由于循环中低密度脂蛋白颗粒清除缺陷导致低密度脂蛋白胆固醇（LDL-C）升高的常见遗传原因。所有FH患者由于其基因决定的终身暴露于高LDL-C水平，都面临过早发生心血管疾病（CVD）事件的高风险。然而，即使在具有相同基因突变和相当LDL-C水平的FH患者中，也报告了不同的CVD事件发生率。因此，除LDL-C之外的其他CVD风险修饰因素可能会增加FH人群的CVD风险。在本综述中，我们讨论了FH人群的总体CVD风险负担。此外，我们修订了几种传统和新兴CVD风险预测指标的预后影响，并概述了特定工具在FH患者CVD风险分层中的作用，以确保为他们提供更个性化的治疗方法。
