Tada Hayato, Takamura Masayuki, Kawashiri Masa-Aki
Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
J Lipid Atheroscler. 2022 Jan;11(1):39-54. doi: 10.12997/jla.2022.11.1.39. Epub 2022 Jan 3.
Familial hypercholesterolemia (FH) is one of the most common and, therefore, important inherited disorders in preventive cardiology. This disease is mainly caused by a single pathogenic mutation in the low-density lipoprotein receptor or its associated genes. Moreover, it is correlated with a high risk of cardiovascular disease. However, the phenotype severity even in this monogenic disease significantly varies. Thus, the current study aimed to describe FH and its importance and the factors (inherited and acquired) contributing to differences in phenotype severity. Different lipid-modification therapies according to these factors can lead to individualized treatments, which are also essential in the general populations.
家族性高胆固醇血症(FH)是预防心脏病学中最常见且重要的遗传性疾病之一。这种疾病主要由低密度脂蛋白受体或其相关基因中的单个致病突变引起。此外,它与心血管疾病的高风险相关。然而,即使在这种单基因疾病中,表型严重程度也存在显著差异。因此,本研究旨在描述FH及其重要性,以及导致表型严重程度差异的因素(遗传因素和后天因素)。根据这些因素采用不同的脂质修饰疗法可实现个体化治疗,这在普通人群中也至关重要。