Familial Hypercholesterolemia

What is Familial Hypercholesterolemia?

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.


How do I treat FH?

Thanks to decades of research, today we have multiple treatments to help those with FH get their LDL to safe levels. This is great news since many individuals with FH need more than one medication to reach their LDL goal.

While diet and exercise are an important part of any heart healthy life, those changes for people with FH are not enough.

With early treatment and the right care, people with FH can live longer, healthier lives.

How do genetics play a role in FH?

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.

Familial Hypercholesterolemia Pedigree

More About FH and Genetics

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.


The good news!

FH is found in 1 in 250 people all over the world, making it one of the most common, life-threatening family disorders. It’s also vastly underdiagnosed – only 30% of individuals born with FH know they have it today.

The good news is that FH can be diagnosed with a simple blood test in the setting of a family history of early cardiovascular disease. Genetic testing can also be used to confirm the presence of FH.

And with early and regular treatment, individuals with FH can live longer, healthier lives. It’s becoming more possible to save more families and more hearts. The important thing is to get the diagnosis early. As you can see in the chart below, if you begin lowering your LDL early, you can bend the risk for cardiovascular disease back to the same as the general population.

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Find help getting the care you deserve

Navigating health care today can be frustrating and difficult. The Family Heart Foundation can help you navigate your journey FH. Experts at the Care Navigation Center are ready to answer all your questions.

Diagnosing FH

Diagnosing FH

FH can be diagnosed with a simple test and family history.

Treating FH

Treating FH

Treatment for FH begins with medicine, along with a heart healthy diet.

Finding an FH Specialist

Finding an FH Specialist

We can help you find an FH specialist through a searchable database.