Other names: Familial Hypercholesterolemia, Heterozygous; Heterozygous Familial Hypercholesterolemia; Heterozygous FH; Hypercholesterolemia, Familial Heterozygous
High cholesterol is the presence of high levels of cholesterol in the blood. Familial means that is passed down through families and is a genetic disorder. The altered gene that causes familial high cholesterol is located on chromosome number 19. It contains the information for a protein called LDL receptor that is responsible to clear up LDL from the blood stream. One in 500 individuals carries one altered gene causing familial hypercholesterolemia. These individuals are called heterozygotes.
