Familial hypercholesterolemia (FH) is a common life-threatening genetic condition that causes high cholesterol. If left untreated, FH leads to early heart attacks and heart disease.

People with FH have an elevated level of low-density lipoprotein (LDL) commonly called the “bad cholesterol.” This happens because a genetic mutation affects the way cholesterol is cleared by the body. As a result, cholesterol builds up in the bloodstream and the walls of the arteries.

Cholesterol buildup in the artery wall is called plaque, hardening of the arteries, or atherosclerosis, and can lead to problems like heart attacks and strokes in young adults and even children.

Like many other genetic conditions, FH is inherited.

If you have FH, every child you have has a 50% chance of inheriting FH.

That’s why family screening is so important. At the Family Heart Foundation, we always say, “you never find a person with FH, you find a family.” When one person in the family is diagnosed, it’s crucial for parents, siblings, and children to get their cholesterol checked as well.

Most people with FH have mutations in one of three genes: LDLR gene, APOB gene, and PCSK9 gene. Currently there are over 2,000 known variants for FH.

How many mutations you inherit affects the type of FH you may have.

• One Inherited Mutation results in heterozygous familial hypercholesterolemia (HeFH). This occurs when one mutation is passed down to a child, typically from one parent.
• Two Inherited Mutations -  When the mutation for HeFH is passed on from both parents to their children this can result in homozygous familial hypercholesterolemia (HoFH), the more rare and severe form of FH.