Koutsogianni Amalia Despoina, Adamidis Petros Spyridonas, Barkas Fotios, Liberopoulos Evangelos, Su Ta-Chen, Yamashita Shizuya, Liamis George, Rizzo Manfredi
Department of Internal Medicine, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.
Department of Hygiene and Epidemiology, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.
Metabolites. 2022 Nov 4;12(11):1065. doi: 10.3390/metabo12111065.
Familial hypercholesterolemia (FH) is the most frequent genetic disorder resulting in increased low-density lipoprotein cholesterol (LDL-C) levels from childhood, leading to premature atherosclerotic cardiovascular disease (ASCVD) if left untreated. FH diagnosis is based on clinical criteria and/or genetic testing and its prevalence is estimated as being up to 1:300,000−400,000 for the homozygous and ~1:200−300 for the heterozygous form. Apart from its late diagnosis, FH is also undertreated, despite the available lipid-lowering therapies. In addition, elevated lipoprotein(a) (Lp(a)) (>50 mg/dL; 120 nmol/L), mostly genetically determined, has been identified as an important cardiovascular risk factor with prevalence rate of ~20% in the general population. Novel Lp(a)-lowering therapies have been recently developed and their cardiovascular efficacy is currently investigated. Although a considerable proportion of FH patients is also diagnosed with high Lp(a) levels, there is a debate whether these two entities are associated. Nevertheless, Lp(a), particularly among patients with FH, has been established as a significant cardiovascular risk factor. In this narrative review, we present up-to-date evidence on the pathophysiology, diagnosis, and treatment of both FH and elevated Lp(a) with a special focus on their association and joint effect on ASCVD risk.
家族性高胆固醇血症（FH）是最常见的遗传性疾病，自儿童期起就会导致低密度脂蛋白胆固醇（LDL-C）水平升高，如果不进行治疗，会导致早发性动脉粥样硬化性心血管疾病（ASCVD）。FH的诊断基于临床标准和/或基因检测，其患病率估计为纯合子高达1:300,000 - 400,000，杂合子形式约为1:200 - 300。除了诊断较晚外，尽管有可用的降脂疗法，FH的治疗也不足。此外，脂蛋白(a) [Lp(a)]升高（>50 mg/dL；120 nmol/L），大多由基因决定，已被确定为一种重要的心血管危险因素，在普通人群中的患病率约为20%。最近开发了新型降低Lp(a)的疗法，目前正在研究它们的心血管疗效。虽然相当一部分FH患者也被诊断为Lp(a)水平高，但对于这两个实体是否相关存在争议。然而，Lp(a)，特别是在FH患者中，已被确认为一个重要的心血管危险因素。在这篇叙述性综述中，我们提供了关于FH和Lp(a)升高的病理生理学、诊断和治疗的最新证据，特别关注它们对ASCVD风险的关联和联合作用。
