Other names: Familial Hypercholesterolemia, Homozygous; Homozygous Familial Hypercholesterolemia; Homozygous FH; Hypercholesterolemia, Familial Homozygous
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. Rarely, a person inherits the gene mutation from both parents, making them genetically homozygous. Individuals who are homozygous have a severe form of hypercholesterolemia, with heart attack and death often occurring before age 30.
