Common Name(s):
Genetic High Cholesterol
Alternative Names & Classifications:
Familial Hypercholesterolemia (CLINICAL)
Description
This disorder is usually caused by mutations in the LDLR gene, which prevents the liver from efficiently removing LDL cholesterol from the blood. The chronic, severe elevation of LDL begins at birth and leads to accelerated atherosclerosis and a high risk of early-onset coronary artery disease. If untreated, individuals can suffer heart attacks at a very young age.