On all cells of the body, and mainly in the liver, there is a receptor that allows low-density lipoprotein (LDL) cholesterol to be cleared from the bloodstream.
People with FH have a defect in the gene of this LDL-cholesterol receptor. This causes LDL cholesterol to accumulate in the blood and ultimately in the walls of your arteries.
Of all the different cholesterol particles in your circulation, LDL cholesterol is the most likely to contribute to fatty deposits in your arteries. Hard, narrow arteries can restrict blood flow around your body and to vital organs such as your heart.
The genetic basis for the LDL-cholesterol receptor has been well researched and today we know of more than 300 different gene defects that lead to FH.