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Reducing cardiovascular risk in patients with familial hypercholesterolemia: Risk prediction and lipid management.
降低家族性高胆固醇血症患者的心血管风险: 风险预测和脂质管理。
Atherosclerotic cardiovascular disease Coronary calcification Familial hypercholesterolemia PCSK9 Risk factors Statins
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摘要

Familial hypercholesterolemia (FH) is a frequent genetic disorder characterized by elevated low-density lipoprotein (LDL)-cholesterol (LDL-C) levels and early onset of atherosclerotic cardiovascular disease. FH is caused by mutations in genes that regulate LDL catabolism, mainly the LDL receptor (LDLR), apolipoprotein B (APOB) and gain of function of proprotein convertase subtilisin kexin type 9 (PCSK9). However, the phenotype may be encountered in individuals not carrying the latter monogenic defects, in approximately 20% of these effects of polygenes predominate, and in many individuals no molecular defects are encountered at all. These so-called FH phenocopy individuals have an elevated atherosclerotic cardiovascular disease risk in comparison with normolipidemic individuals but this risk is lower than in those with monogenic disease. Individuals with FH are exposed to elevated LDL-C levels since birth and this explains the high cardiovascular, mainly coronary heart disease, burden of these subjects. However, recent studies show that this risk is heterogenous and depends not only on high LDL-C levels but also on presence of previous cardiovascular disease, a monogenic cause, male sex, smoking, hypertension, diabetes, low HDL-cholesterol, obesity and elevated lipoprotein(a). This heterogeneity in risk can be captured by risk equations like one from the SAFEHEART cohort and by detection of subclinical coronary atherosclerosis. High dose high potency statins are the main stain for LDL-C lowering in FH, however, in most situations these medications are not powered enough to reduce cholesterol to adequate levels. Ezetimibe and PCSK9 inhibitors should also be used in order to better treat LDL-C in FH patients.

译文

家族性高胆固醇血症 (FH) 是一种常见的遗传性疾病,以低密度脂蛋白 (LDL)-胆固醇 (LDL-C) 水平升高和动脉粥样硬化性心血管疾病的早期发病为特征。FH 是由调节低密度脂蛋白分解代谢的基因突变引起的,主要是低密度脂蛋白受体 (LDLR) 、载脂蛋白 B (APOB) 和前蛋白转化酶枯草杆菌素 kexin 9 型 (PCSK9) 功能的增加。然而,表型可能在不携带后一种单基因缺陷的个体中遇到,在多基因的这些效应中,大约 20% 占主导地位,在许多个体中,根本没有遇到分子缺陷。这些所谓的 FH 表型个体与正常血脂个体相比,动脉粥样硬化性心血管疾病风险升高,但这种风险低于单基因疾病个体。FH 个体自出生以来就暴露于升高的 LDL-C 水平,这解释了这些受试者的高心血管负担,主要是冠心病。然而,最近的研究表明,这种风险是异质的,不仅取决于高低密度脂蛋白-C 水平,还取决于以前心血管疾病、单基因病因、男性、吸烟、高血压的存在。糖尿病、低高密度脂蛋白胆固醇、肥胖和脂蛋白升高 (a)。这种风险的异质性可以通过安全心脏队列中的风险方程和亚临床冠状动脉粥样硬化的检测来捕捉。高剂量高效他汀类药物是 FH 中降低 LDL-C 的主要药物,然而,在大多数情况下,这些药物不足以将胆固醇降低到足够的水平。还应使用依折麦贝和 PCSK9 抑制剂,以便更好地治疗 FH 患者的 LDL-C。

hypercholesterolemia

心血管 脂质代谢异常 疾病
概述  :  

高胆固醇血症( hypercholesterolemia)是指血浆总胆固醇浓度大于正常范围的脂质代谢异常。人体生化指标的正常值的确定多采用统计学中的百分数法,即取人群的第90或95百分数作为上限,超过上限即认为是过高。人群流行病学调查资料表明,血浆胆固醇水平位于第75~90百分位数者,患动脉粥样硬化和冠心病的危险性明显增高。 病因及发病机制 高胆固醇血症的主要原因是生活方式不良和遗传基因突变,其次为年龄效应和女性更年期影响。在绝大多数情况

Hypercholesterolemia [,haɪpəkə,lɛstərə'limiə]

释义   n. 血胆脂醇过多;高胆固醇血症;高胆固醇

例句   Patients with hyperlipidemia, hypercholesterolemia, atherosclerosis and other cardiovascular and liver diseases must eat carefully. 高血脂、高胆固醇血症、动脉硬化及其他心血管和肝病患者应慎食。


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