Familial combined hyperlipidemia (FCHL) is one of the most common familial lipoprotein disorders of the lipoproteins, with a prevalence of 0.5% to 2% in different populations. About 10% of these patients suffer from cardiovascular disease and this number is increased by up to 11.3% in the young survivors of myocardial infarction and by 40% among all the survivors of myocardial infarction. Although initially thought to be that FCHL has an inheritance pattern of monogenic, the disease’s etiology is still not fully understood and it appears that FCHL has a complex pattern related to genetic variants, environmental factors, and lifestyles. Two strategies have been used to identify its complex genetic background: candidate gene and the linkage approach, which have yielded an extensive list of genes associated with FCHL with a variable degree of scientific evidence. Until now, more than 30 different genetic variants have been identified related to FCHL. In this study, we aimed to review the individual genes that have been described in FCHL and how these genes and variants can be related to the current concept of metabolic pathways resulting in familial combined hyperlipidemia.

家族性综合性高脂血症（FCHL）是最常见的脂蛋白家族性脂蛋白病之一，不同人群的患病率为0.5%～2%。这些患者中约有 10% 患有心血管疾病，这一数字在年轻的心肌梗塞幸存者中增加了 11.3%，在所有心肌梗塞幸存者中增加了 40%。尽管最初认为 FCHL 具有单基因遗传模式，但该疾病的病因仍未完全了解，并且似乎 FCHL 具有与遗传变异、环境因素和生活方式相关的复杂模式。已使用两种策略来识别其复杂的遗传背景：候选基因和连锁方法，这已经产生了与 FCHL 相关的广泛基因列表，并具有不同程度的科学证据。到目前为止，已鉴定出与 FCHL 相关的 30 多种不同的遗传变异。在本研究中，我们旨在回顾已在 FCHL 中描述的单个基因，以及这些基因和变异如何与当前导致家族性合并高脂血症的代谢途径概念相关。