What is Familial Hypercholesterolemia (FH)?
FH patients have high blood concentrations of LDL cholesterol due to a genetic disorder which prevents proper metabolism of LDL-particles. These patients experience a markedly increased risk of premature cardiovascular diseases (CVD) and CVD-related death. Familial hypercholesterolemia can be present in two forms: homozygous (hoFH), where the same defective gene is inherited from both parents, or heterozygous (heFH), where the defective gene is inherited from only one parent so that some function is preserved. The homozygous form is a very rare condition estimated to affect approximately one in a million people. Children with hoFH are at high risk for early coronary events and sudden death as young as age one. HeFH is more common, with a prevalence of approximately one in 500, and patients with heFH also experience elevated LDL cholesterol and are at high risk for early coronary events. For undiagnosed or untreated heFH, the cumulative risk of a coronary heart disease (CHD) by age 60 y
