Hypercholesterolemia Panel

Familial hypercholesterolemia (FH), the most common inherited cardiovascular disease, is characterized by severly elevated low-density lipoprotein cholesterol (LDL-C). Elevated LDL-C levels lead to atherosclerotic plaque deposition and an increased risk for cardiovascular disease at an early age. Xanthomas, patches of yellowish cholesterol buildup, are also a common feature of FH and can occur around the eyelids and within tendons of the elbows, hands, knees, and feet. The most common cardiovascular disease is coronary artery disease (CAD), which may manifest as angina and myocardial infarction. If left untreated, men are at a 50% risk and women at a 30% risk for a coronary event by age 50 and 60 years, respectively. The most common cause of FH are  heterozygous pathogenic variants in the APOB, LDLR, and PCSK9 genes. Additionally, biallelic pathogenic variants in these genes can also cause a more severe form of FH with most individuals experiencing severe CAD by their mid-20s.  Rarely, elevated high-density lipoprotein cholesterol (HDL-C) levels can be elevated in individuals with pathogenic variants in STAP1, these patients are also at increased risk for CAD. This panel includes sequence and deletion/duplication analysis of the listed genes.