This video shows the underlying processes causing FH and why early detection is so important.
There are more than 1,500 known genetic mutations that have been linked to familial hypercholesterolemia. All of these mutations affect three known genes that impact LDL clearance.
FH may be caused by genetic mutations that:
- Change the structure of LDL-receptors, preventing them from removing LDL from the blood
- Cause LDL-receptors to be underexpressed, reducing LDL clearance
- Change the structure of Apo B, reducing the ability of LDL-receptors to remove LDL from the blood
- Increase production of PCSK9 enzymes that degrade LDL-receptors, impairing their ability to remove LDL from the blood
Due to these mutations, hepatocytes are unable to effectively remove LDL from the blood. High plasma concentrations of LDL contribute to rapid atherosclerosis and an increased risk of early and severe cardiovascular disease.
Early detection of familial hypercholesterolemia (FH) can help prevent premature cardiovascular disease.