Let's talk about Familial Hypercholesterolemia & Genetics
What is FH?
Familial hypercholesterolemia (FH) is a genetic condition associated with very high levels of cholesterol in the blood, specifically low-density lipoprotein (LDL), or “bad” cholesterol. High cholesterol due to FH increases the risk for early cardiovascular disease, which can lead to a heart attack.
In the general population, LDL cholesterol levels tend to start increasing in middle age and are often influenced by diet and other lifestyle choices. But for people who have FH, LDL levels can be elevated from birth. In both people with and without FH, high LDL cholesterol increases the risk for heart disease, but in people with FH the risk is higher because their cumulative exposure to elevated LDL is longer.
Is FH genetic?
Yes. FH is one of the most common genetic conditions. FH is linked to variants (differences) in multiple genes. Two of these genes are called APOB and LDLR. There are over 1,000 genetic variants known to be associated with FH.
FH is serious, and many don’t know they have it.
Most people who have FH aren’t aware they have it. According to the Family Heart Foundation, as many as 70% of people with FH have not been properly diagnosed.
If left untreated, men have a 50% risk of having a heart attack by age 50, and women have a 30% risk of having a heart attack by age 60. The good news is FH can be treated. Early and active treatment of FH can substantially reduce the risk for heart disease.
Consult with a healthcare professional before making any major lifestyle changes.
You can learn whether you have a genetic variant linked to FH through the 23andMe Familial Hypercholesterolemia Genetic Health Risk report*. People who have a genetic variant in this report are likely to have elevated LDL cholesterol levels, which are associated with an increased risk for heart disease. The report looks for 24 of some of the most common genetic variants linked to FH – one in the APOB gene and 23 in the LDLR gene. You can get the Familial Hypercholesterolemia Genetic Health Risk report* with the 23andMe Health + Ancestry Service.
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You can learn more about FH and how to manage it, as well as connect to educational and community resources through the Family Heart Foundation.
*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. The Familial Hypercholesterolemia genetic health risk report is indicated for reporting of one variant in the APOB gene and 23 variants in the LDLR gene and describes if a person has variants associated with an increased risk of developing very high LDL cholesterol, which can lead to heart disease. The majority of the variants included in this report have been most studied in people of European and Lebanese descent, as well as in the Old Order Amish.
Family Heart Foundation. (2017). “Do you know FH?” Retrieved February 13, 2019, from https://familyheart.org/media/FHAD_2017_Infographic-EnglishUSA.pdf?x62576.
Family Heart Foundation. (2019). “FH Awareness Day Media Kit” Retrieved February 13, 2019, from https://familyheart.org/tools-and-resources/toolkits.
Family Heart Foundation. (2019). “What is FH?”. Retrieved January 30, 2019, from https://familyheart.org/familial-hypercholesterolemia.
National Institutes of Health. “About Familial Hypercholesterolemia”. National Human Genome Research Institute. Retrieved January 30, 2019, from https://www.genome.gov/25520184/learning-about-familial-hypercholesterolemia/.
U.S. National Library of Medicine. (2019) “Hypercholesterolemia.” Genetics Home Reference.
Youngblom E et al. (2014). “Familial Hypercholesterolemia.” [Accessed Jun 25, 2018]