Familial Hypercholesterolemia

What is Familial Hypercholesterolemia?

Familial hypercholesterolemia (FH) is a common life-threatening genetic condition that causes high cholesterol. Untreated, FH leads to early heart attacks and heart disease.*People with FH have a high amount of low density lipoprotein (LDL) or “bad cholesterol” due to a mutation in one of the genes that controls the way cholesterol is cleared by the body. As a result, cholesterol accumulates in the bloodstream and can ultimately build up in the walls of the arteries. Cholesterol build up in the artery wall is called hardening of the arteries, or atherosclerosis, and can lead to problems such as heart attacks and strokes in young adults and even children.


FH is inherited and passed down through families. When one individual with FH is diagnosed, it is important that all family members are screened for FH.

Treatment should begin early. Although lifestyle and diet are important factors to staying heart healthy, for individuals with FH, that is not enough

FInd a Specialist

Help Finding a Specialist

Finding an FH Specialist that understands how to diagnose and treat familial hypercholesterolemia (FH) is critical for good care. the Family Heart Foundation has compiled a searchable list FH specialists that understand that individuals with FH are at much higher risk for heart disease than someone with “garden variety” high cholesterol.

What is the Role of Cholesterol in Familial Hypercholesterolemia?

Cholesterol is vital for life. It is a fatty substance produced and used by the liver. It is necessary for production of hormones and bile acids (they aid in digesting food. Importantly, cholesterol is an integral component of the membranes (outside surfaces) of every cell in the body. The liver gets cholesterol by making it, by recycling bile, or from small particles transported in the bloodstream called lipoproteins.


Good vs bad cholesterol in familial hypercholesterolemia

Two kinds of lipoproteins carry cholesterol throughout your body:

  • Low-density lipoproteins (LDL) – Sometimes called “bad cholesterol,” it can lead to a buildup in your arteries. The higher the LDL number, the greater the risk of cholesterol depositing in your arteries. This can lead to a heart attack or stroke.
  • High-density lipoproteins (HDL)- Known as “good cholesterol,” it carries cholesterol from other parts of your body back to your liver. Having high HDL may be a biomarker for protection against heart disease.

For individuals with FH (including children), gene mutations make it impossible for their bodies to remove excess bad cholesterol form the blood stream. Over time, the elevated blood cholesterol will lead to blockages in the arteries of the heart and/or brain. The longer a person experiences high LDL cholesterol, the higher the risk for heart attacks or stroke related to these blockages.

cholesterol plaque in familial hpercholesterolemia

How is familial hypercholesterolemia inherited?

Like many other genetic conditions, FH is inherited Each child of a person with FH has a 50% chance of inheriting the disorder so it is essential to screen parents, siblings and children of a person diagnosed with FH to find others who may have inherited the genes.
Familial Hypercholesterolemia Pedigree

At present, most people with FH have variants in one of three genes: LDLR gene, APOB gene, and PCSK9 gene. To date, 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 – Called Heterozygous Familial Hypercholesterolemia (HeFH), one abnormal 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.

Early Diagnosis of Familial Hypercholesterolemia Saves Lives

FH is one of the most common life-threatening family disorders found in 1 in 250 people of all races and ethnicities.FH is vastly underdiagnosed – only 20% of individuals born with FH know they have it and are diagnosed today. This is due to low public awareness, the failure to link very high cholesterol with a genetic cause, and that many individuals with FH also show no visible symptoms and therefore are not receiving the care they need.

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

And with early and regular treatment, individuals with FH can live longer, healthier lives.


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.



Duell, PB, et al. Longitudinal low density lipoprotein cholesterol goal achievement and cardiovascular outcomes among adult patients with familial hypercholesterolemia
Atherosclerosis 2019 https://doi.org/10.1016/j.atherosclerosis.2019.08.007
deGoma, EM, et al. Treatment Gaps in Adults with Heterozygous Familial Hypercholesterolemia in the United States: Data from the CASCADE FH® Registry
Circulation: Cardiovascular Genetics 2016 https://doi.org/10.1161/CIRCGENETICS.116.001381
Nordestgaard, B. and Benn, M. Genetic testing for familial hypercholesterolaemia is essential in individuals with high LDL cholesterol: who does it in the world?. European Heart Journal, 38(20), pp.1580-1583.
Foody JM. Familial Hypercholesterolemia: An Under-recognized but Significant Concern in Cardiology Practice. Clin. Cardiol. 2013;37(2):124.

Page reviewed by: Michael Shapiro DO