People with FH have fewer receptors on their cell membranes and therefore have elevated cholesterol

How does hypercholesterolemia affect the cells?

Mutations in any of these genes prevent cells from making functional receptors or alter the receptors’ function. Hypercholesterolemia results when low-density lipoprotein receptors are unable to remove cholesterol from the blood effectively.

How does hypercholesterolemia affect the body?

With high cholesterol, you can develop fatty deposits in your blood vessels. Eventually, these deposits grow, making it difficult for enough blood to flow through your arteries. Sometimes, those deposits can break suddenly and form a clot that causes a heart attack or stroke.