Bello-Chavolla Omar Yaxmehen, Kuri-García Anuar, Ríos-Ríos Monserratte, Vargas-Vázquez Arsenio, Cortés-Arroyo Jorge Eduardo, Tapia-González Gabriela, Cruz-Bautista Ivette, Aguilar-Salinas Carlos Alberto
Metabolic Diseases Research Unit, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
MD/PhD (PECEM) Program, Facultad de Medicina, Universidad Nacional Autónoma de México, México.
Rev Invest Clin. 2018;70(5):224-236. doi: 10.24875/RIC.18002575.
Familial combined hyperlipidemia (FCHL) is the most prevalent primary dyslipidemia; however, it frequently remains undiagnosed and its precise definition is a subject of controversy. FCHL is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B. FCHL is an oligogenic primary lipid disorder, which can occur due to the interaction of several contributing variants and mutations along with environmental triggers. Controversies surrounding the relevance of identifying FCHL as a cause of isolated hypertriglyceridemia and a differential diagnosis of familial hypertriglyceridemia are offset by the description of associations with USF1 and other genetic traits that are unique for FCHL and that are shared with other conditions with similar pathophysiological mechanisms. Patients with FCHL are at an increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, non-alcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome. Management usually requires lipid-lowering therapy directed toward reducing cholesterol and triglyceride concentrations along with cardiovascular risk protection. In recent years, the number of research studies on FCHL has been decreasing, mainly due to a lack of recognition of its impact on disease burden and comorbidity and the complexity in identifying probands for studies. This creates areas of opportunity to develop research for FCHL in epidemiology, genetics, pathophysiology, therapeutics, and cardiovascular risk management, which are discussed in depth in this review. (REV INVEST CLIN. 2018;70:224-36).
家族性混合型高脂血症（FCHL）是最常见的原发性血脂异常；然而，它常常未被诊断出来，其确切定义也存在争议。FCHL的特征是血清脂质浓度波动，可能表现为混合型高脂血症、单纯性高胆固醇血症、高甘油三酯血症，或血清脂质谱正常但载脂蛋白B水平异常升高。FCHL是一种寡基因原发性脂质紊乱，可能由于多种相关变异和突变与环境触发因素相互作用而发生。围绕将FCHL确定为单纯性高甘油三酯血症病因以及家族性高甘油三酯血症鉴别诊断的相关性的争议，因与USF1及其他FCHL特有的遗传特征的关联描述而得到缓解，这些特征也与其他具有相似病理生理机制的疾病共有。FCHL患者患心血管疾病和死亡的风险增加，并且与其他代谢性疾病如2型糖尿病、非酒精性脂肪性肝病、脂肪性肝炎和代谢综合征的共病频率很高。治疗通常需要进行降脂治疗，以降低胆固醇和甘油三酯浓度，并保护心血管风险。近年来，关于FCHL的研究数量一直在减少，主要是因为对其对疾病负担和共病的影响缺乏认识，以及确定研究先证者的复杂性。这为在流行病学、遗传学、病理生理学、治疗学和心血管风险管理方面开展FCHL研究创造了机会领域，本综述将对此进行深入讨论。（《临床研究回顾》。2018年；70:224 - 36）
