What is familial hypercholesterolemia?

Familial hypercholesterolemia is an inherited condition that causes high levels of LDL (low density lipoprotein) cholesterol levels beginning at birth, and heart attacks at an early age. Cholesterol is a fat-like substance that is found in the cells of the body. Cholesterol is also found in some foods. The body needs some cholesterol to work properly and uses cholesterol to make hormones, vitamin D, and substances that help with food digestion. However, if too much cholesterol is present in the blood stream, it builds up in the wall of the arteries and increases the risk of heart disease.

Cholesterol is carried in the blood stream in small packages called lipoproteins. These small packages are made up of fat (lipid) on the inside and proteins on the outside. There are two main kinds of lipoprotein that carry cholesterol throughout the body. These are: low density lipoprotein (LDL) and high density lipoprotein (HDL).

The cholesterol carried by LDL is some times called the "bad cholesterol." People who have familial hypercholesterolemia have high levels of LDL cholesterol because they can not remove the LDL from the blood stream properly. The organ responsible for the removal of the LDL is the liver. High levels of LDL cholesterol in the blood increase the risk for heart attacks and heart disease.