Hypercholesterolemia means high blood cholesterol. Familial Hypercholesterolemia is a genetic disorder that causes severely elevated cholesterol levels. Normal total cholesterol levels are approximately 200 mg/dL, but people with FH may have a cholesterol level in the 350 to 500 mg/dL range. I f untreated, individuals with FH have approximately a 20-fold higher risk of early onset heart disease compared with people with normal cholesterol levels. The type of cholesterol that is elevated in Familial Hypercholesterolemia is called LDL (low density lipoprotein) cholesterol. LDL cholesterol transports cholesterol through the blood stream. Excess LDL cholesterol collects in the blood vessels, eventually blocking blood flow through these vessels. The blocked blood vessels may lead to chest pain and heart attacks.
Familial Hypercholesterolemia is common; 1 in 500 people have FH. If one parent has FH, there is a 50% chance that his or her offspring would have FH. Rarely, a person inherits an abnormal gene from both parents, and it results in a more severe form of FH, called homozygous FH (1 in 1,000,000 people). If left untreated, a person with homozygous FH may die of heart disease in childhood or adolescence.
FH is caused by mutations or changes in a gene that codes for the LDL-receptor. The defective LDL-receptor cannot take up LDL-Cholesterol from the blood into the cell. Excess cholesterol is deposited in blood vessel walls and sometimes in tendons, the skin, and the eyes.
Familial Hypercholesterolemia (FH) is a treatable inherited disease, where a genetic mutation causing high blood cholesterol is transmitted from generation to generation. Familial means it runs in families; sometimes it is possible to trace the disease over several generations.
Related Information:
