Familial Hypercholesterolemia

Abstract

Familial hypercholesterolemia is a genetic and metabolic disorder associated with an increased risk of morbidity and mortality. Two main types of familial hypercholesterolemia are distinguished: heterozygous familial hypercholesterolemia and homozygous familial hypercholesterolemia. Homozygous familial hypercholesterolemia progresses much more aggressively with higher levels of LDL-C and higher risk of cardiovascular disease at earlier ages. The prognosis of homozygous familial hypercholesterolemia largely depends on the LDL-C levels. Reducing the LDL-C level is one of the primary goals of treatment patients with familial hypercholesterolemia. Effective control of LDL-C significantly reduces the cardiovascular morbidity and mortality. Understanding the factors likely to affect treatment adherence is paramount. Adherence to treatment can be improve when a genetic etiology is confirmed. Positive genetic test result has beneficial effects on adherence to pharmacotherapy and in achieving LDL-C levels reduction.