PDF(Pubmed)
Abstract：
Familial hypercholesterolemia (FH) is the most common monogenic disorder in humans. It affects millions of people globally, increasing the risk of developing cardiovascular disease (CVD) at a younger age due to elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth. While effective traditional and novel treatments are available, the most significant challenge with FH is the lack of timely diagnosis. As a result, many patients remain undertreated leading to an increased risk of CVD. To mitigate risk, initiating early and aggressive LDL-C-lowering therapies is recommended. Moreover, given its autosomal dominant inheritance patterns, it is also recommended to perform cascade lipid and/or genetic testing of all first-degree relatives. This review highlights the importance of early FH diagnosis and available treatment options. Greater awareness and improved screening efforts can help diagnose and treat more individuals, ultimately reducing the CVD risk associated with FH.
摘要：
家族性高胆固醇血症（FH）是人类最常见的单基因疾病。它影响着全球数百万人，由于低密度脂蛋白胆固醇（LDL-C）从出生起就升高，因此在年轻时发展为心血管疾病（CVD）的风险增加。虽然有有效的传统和新颖的治疗方法，FH的最大挑战是缺乏及时的诊断.因此,许多患者治疗不足导致CVD风险增加.为了降低风险，建议早期和积极的LDL-C降低治疗.此外，鉴于其常染色体显性遗传模式，还建议对所有一级亲属进行级联脂质和/或基因检测.这篇综述强调了早期FH诊断和可用治疗方案的重要性。提高意识和改善筛查工作可以帮助诊断和治疗更多的人。最终降低与FH相关的CVD风险。
