What is Familial Hypercholesterolemia?

Cholesterol is removed from the blood by the liver using Low Density Lipoprotein (LDL) receptors. Each person has two genes that are responsible for making the LDL receptors: one received from the father and one received from the mother.  In a person with familial hypercholesterolemia (FH), an abnormal gene was passed on from one parent who has FH and a normal gene was passed on from the other parent. Therefore, half of the LDL receptors are absent or do not work properly and the other half are normal. Because half of the receptors do not remove the cholesterol normally, cholesterol levels increase in the blood. This results in damage to blood vessels, blockage of arteries and heart attacks.

Patients with hypercholesterolemia are resistant to traditional cholesterol lowering therapies. Patients may be homozygotes, who have inherited the gene for the condition from both parents. These patients have the most severe form of the disorder, with heart disease typically occurring during childhood. Other patients are heterozygotes, who inherited the gene for the condition from one parent. These patients typically experience heart disease during their fourth and fifth decades of life. 

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LDL-apheresis Treatment

LDL-apheresis is a procedure reserved for the treatment of patients with the genetic form of marked hyperlipidemia that is unresponsive to diet, exercise and medicine. LDL apheresis is a procedure that takes blood outside the body to remove the LDL-cholesterol, the major cholesterol carrying lipoprotein in your blood, and then returns the plasma and blood back to the body. This treatment produces a greater than 50 percent decrease in LDL cholesterol while raising HDL, resulting in an extremely favorable total cholesterol and LDL-to-HDL ratio.