Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis

Familial hypercholesterolemia (FH) is a common, inherited disorder of cholesterol metabolism. This pathology is usually an autosomal dominant disorder and is caused by inherited mutations in the APOB, LDLR, and PCSK9 genes. Patients can have a homozygous or a heterozygous genotype, which determines the severity of the disease and the onset age of cardiovascular disease (CVD) manifestations. The incidence of heterozygous FH is 1: 200–250, whereas that of homozygous FH is 1: 100.000–160.000. Unfortunately, FH is often diagnosed too late and after the occurrence of a major coronary event. FH may... Mehr ...