Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a group of inherited genetic defects that lead to the severe elevation of serum cholesterol concentrations. Clinically familial hypercholesterolemia is diagnosed by a high serum level of low-density lipoprotein (LDL) cholesterol and genetically is characterized into two subgroups: (1) autosomal dominant (AD), (2) codominant transmission with 90% or higher penetrance.[1] A dominant trait transmission is the most common type of familial hypercholesterolemia. In the Fredrickson classification, patients with familial hypercholesterolemia have been seen in type 2a, 2b, and 3 hyperlipidemias; however, type 2a is the most common familial hypercholesterolemia type.[2] Elevation of serum LDL cholesterol in patients with familial hypercholesterolemia leads to an increase in the risk of atherosclerotic disease and, subsequently, premature death.[3] Early detection of familial hypercholesterolemia and aggressive management to lower the LDL cholesterol level helps in preventing or slowing the progression of coronary atherosclerosis. First-degree relatives of a patient with FH should be screened, so that other gene carriers can be identified and treated.[4]
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