PDF(Pubmed)
Abstract：
Familial hypercholesterolemia (FH) is a genetic disorder primarily transmitted in an autosomal-dominant manner. We distinguish two main forms of FH, which differ in the severity of the disease, namely homozygous familial hypercholesterolemia (HoFH) and heterozygous familial hypercholesterolemia (HeFH). The characteristic feature of this disease is a high concentration of low-density lipoprotein cholesterol (LDL-C) in the blood. However, the level may significantly vary between the two mentioned types of FH, and it is decidedly higher in HoFH. A chronically elevated concentration of LDL-C in the plasma leads to the occurrence of certain abnormalities, such as xanthomas in the tendons and skin, as well as corneal arcus. Nevertheless, a significantly more severe phenomenon is leading to the premature onset of cardiovascular disease (CVD) and its clinical implications, such as cardiac events, stroke or vascular dementia, even at a relatively young age. Due to the danger posed by this medical condition, we have investigated how both non-pharmacological and selected pharmacological treatment impact the course of FH, thereby reducing or postponing the risk of clinical manifestations of CVD. The primary objective of this review is to provide a comprehensive summary of the current understanding of FH, the effectiveness of lipid-lowering therapy in FH and to explain the anatomopathological correlation between FH and premature CVD development, with its complications.
摘要：
家族性高胆固醇血症（FH）是一种主要以常染色体显性遗传方式传播的遗传性疾病。我们区分FH的两种主要形式，疾病的严重程度不同，即纯合子家族性高胆固醇血症(HoFH)和杂合子家族性高胆固醇血症(HeFH)。这种疾病的特征是血液中高密度脂蛋白胆固醇（LDL-C）的高浓度。然而,在上述两种类型的FH之间，水平可能会有很大差异，在HoFH中肯定更高。血浆中LDL-C浓度的长期升高导致某些异常的发生。比如肌腱和皮肤的黄色瘤，以及角膜弧。然而，一个明显更严重的现象是导致心血管疾病（CVD）的过早发作及其临床意义，比如心脏事件,中风或血管性痴呆，即使在相对年轻的时候。由于这种医疗状况带来的危险，我们已经调查了非药物和选定的药物治疗如何影响FH的过程，从而降低或推迟CVD临床表现的风险。这篇综述的主要目的是提供对当前对FH的理解的全面总结，降脂治疗在FH中的有效性，并解释FH与早期CVD发展之间的解剖病理学相关性，它的并发症。
