Familial hypercholesterolemia

The low-density lipoprotein cholesterol (LDL-C) is established as a causative agent of atherosclerotic cardiovascular disease (ASCVD) and lowering plasma LDL-C levels represents the main approach to reduce the risk of cardiovascular events. Statins remain the cornerstone of drug therapy for dyslipidemia.

11p viharuno 03-01-2025 1 1   Download

Familial hypercholesterolemia is an autosomal dominant disease caused by mutations in the gene encoding the low-density lipoprotein receptor. To date, more than 900 different mutations have been described. Transport-defective mutations (class 2) causing partial or complete retention of the receptor in the endoplasmic reticulum are the predominant class of muta-tions.

13p galaxyss3 19-03-2013 31 4   Download