Paquette Martine, Bernard Sophie
Genetic Dyslipidemias Clinic, Montreal Clinical Research Institute, Montreal, QC, Canada.
Division of Endocrinology, Department of Medicine, Université de Montréal, Montreal, QC, Canada.
Front Cardiovasc Med. 2022 Apr 14;9:886266. doi: 10.3389/fcvm.2022.886266. eCollection 2022.
Multifactorial chylomicronemia syndrome (MCS or type V hyperlipoproteinemia) is the most frequent cause of severe hypertriglyceridemia and is associated with an increased risk of acute pancreatitis, cardiovascular disease, and non-alcoholic steatohepatitis. The estimated prevalence of MCS in the North American population is 1:600-1:250 and is increasing due to the increasing prevalence of obesity, metabolic syndrome, and type 2 diabetes. Differentiating between familial chylomicronemia syndrome and MCS is crucial due to their very different treatments. In recent years, several cohort studies have helped to differentiate these two conditions, and recent evidence suggests that MCS itself is a heterogeneous condition. This mini-review will summarize recent literature on MCS, with a specific focus on the genetic determinants of the metabolic risk and the latest developments concerning the pharmacological and non-pharmacological treatment options for these patients. Possible research directions in this field will also be discussed.
多因素乳糜微粒血症综合征（MCS或V型高脂蛋白血症）是严重高甘油三酯血症最常见的病因，与急性胰腺炎、心血管疾病和非酒精性脂肪性肝炎风险增加相关。北美人群中MCS的估计患病率为1:600 - 1:250，且由于肥胖、代谢综合征和2型糖尿病患病率的增加而呈上升趋势。由于家族性乳糜微粒血症综合征和MCS的治疗方法截然不同，因此对二者进行区分至关重要。近年来，多项队列研究有助于区分这两种情况，且最新证据表明MCS本身是一种异质性疾病。本综述将总结关于MCS的最新文献，特别关注代谢风险的遗传决定因素以及这些患者药物和非药物治疗选择的最新进展。还将讨论该领域可能的研究方向。
