载脂蛋白B
血浆脂蛋白
PCSK9
基因
血浆浓度
小学(天文学)
突变
内科学
医学
生物
内分泌学
遗传学
脂蛋白
胆固醇
低密度脂蛋白受体
天文
物理
作者
Sergio Martínez-Hervás,José Tomás Real-Collado,Juan Francisco Ascaso-Gimilio
标识
DOI:10.1016/j.arteri.2020.12.011
摘要
Hypolipoproteinemias are characterized by a decrease in the plasma concentration of lipoproteins. Within them, we find two groups: hypobetalipoproteinemias (HBL), due to a decrease in the plasma concentration of lipoproteins containing apolipoprotein B, and hypoalphalipoproteinemias. Hypolipoproteinemias can be classified according to their origin, into primary and secondary. Primary HBLs are rare entities produced by mutations in different genes. So far, more than 140 mutations have been identified in the APOB, PCSK9, ANGPTL3, MTTP, and SAR1 genes. Early diagnosis and treatment are essential to avoid the development of serious complications. In this review we address the diagnosis and treatment of HBL, especially those in which there is hypotriglyceridemia.
科研通智能强力驱动
Strongly Powered by AbleSci AI