Familial Hypercholesterolemia

Excerpt

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. 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. Elevation of serum LDL cholesterol in patients with familial hypercholesterolemia leads to an increase in the risk of atherosclerotic disease and, subsequently, premature death. 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.