Familial Hypercholesterolemia

Alternate Names : Type IIa Hyperlipoproteinemia

Familial hypercholesterolemia is an inherited disease that causes high cholesterol levels.

What is going on in the body?

Normally, the liver regulates the amount of cholesterol or fat in the blood. It uses special docking sites, or receptors, to remove extra cholesterol. A person with familial hypercholesterolemia inherits an abnormal gene for the docking site from one or both parents.

If an abnormal gene is inherited from one parent, the body makes only half of the usual number of docking sites. If the abnormal gene is inherited from both parents, the body makes no docking sites. In either case, the level of cholesterol gets too high in the blood. This can lead to heart attacks, strokes, and other problems.

What are the causes and risks of the condition?

This disease is inherited and occurs in about 1 in 1000 people. The chance of inheriting two bad genes, one from each parent, is 1 in 1,000,000.