Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a genetic disorder that gives you very high levels of low-density lipoprotein (LDL) cholesterol. LDL is the “bad” cholesterol that can lead to cholesterol plaque buildup in your arteries. This can eventually cause heart attacks, strokes or peripheral artery disease.

A healthy LDL level is less than 100 mg/dL (milligrams per deciliter). People with familial hypercholesterolemia can have an LDL of 160mg/dL or higher.

Without treatment, people who have this disorder are at a higher risk of getting coronary artery disease early. This can lead to heart attacks and other cardiovascular issues at a much younger age than for people who don’t have FH.

While this may sound overwhelming, there is hope. You can treat familial hypercholesterolemia by taking medicines and changing daily habits.

Types of familial hypercholesterolemia

There are two types of FH. The difference between them is in whether one or both biological parents give you the genetic variant (change) that causes FH:

• Heterozygous familial hypercholesterolemia is the type you have if one of your parents gives you the FH variant. This is the more common of the two types.
• Homozygous familial hypercholesterolemia is the type you have if you get the variant from both of your parents. This is rare and more severe than the heterozygous type.

FH is an autosomal dominant genetic disorder, which means it only takes one parent to pass it on.

How common is it?

About 1 in 250 people have a genetic variant for the more common type of familial hypercholesterolemia. Only 1 in 250,000 people have the more severe type.

Most people — 9 out of 10 — who have FH don’t know they have it.