Although a selective strong elevation in the plasma level of low-density lipoprotein (LDL) cholesterol is the hallmark of familial hypercholesterolemia (FH), also other plasma lipoprotein and lipid subspecies are changed in these patients. Several studies in FH patients have pointed to the qualitative abnormalities of high-density lipoprotein (HDL) particles, including their triglyceride and sphingomyelin enrichment, reduced capacity to promote cholesterol efflux from macrophages, impaired anti-inflammatory and anti-oxidant activities, and reduced plasma levels of miRs regulating HDL-dependent cholesterol efflux from macrophage foam cells, typical of atherosclerotic lesions. Thus, accurate understanding of HDL functionality and its disturbances in FH may serve a better estimation of the prognosis and also provide additional clues when searching for novel therapeutic choices in this disease. In spite of such a potential promise, there has been no prior comprehensive review focusing on indices of HDL function in FH patients. In the present review, we aim to fulfill this gap by identifying measures of HDL function that are impaired in FH, and by providing a concise summary on the impact of different lipid-modifying therapies on HDL functionality in FH.

尽管低密度脂蛋白（LDL）胆固醇的血浆水平选择性升高是家族性高胆固醇血症（FH）的标志，但这些患者的其他血浆脂蛋白和脂质亚种也发生了变化。FH患者的多项研究指出高密度脂蛋白（HDL）颗粒的质异常，包括甘油三酸酯和鞘磷脂富集，促进巨噬细胞胆固醇外排的能力降低，抗炎和抗氧化活性受损以及血浆降低调节巨噬细胞泡沫细胞中HDL依赖性胆固醇流出的miR的水平，这是动脉粥样硬化病变的典型特征。因此，准确了解HDL功能及其对FH的干扰可能有助于更好地评估预后，并在寻找该疾病的新治疗选择时提供更多线索。尽管有这样的潜在希望，但目前尚未有针对FH患者HDL功能指标的全面综述。在本综述中，我们旨在通过识别在FH中受损的HDL功能的措施，并提供有关不同脂质修饰疗法对FH中HDL功能的影响的简要概述，来弥补这一差距。