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 FH Foundation, as many as 90% 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.
You can learn more about FH and how to manage it, as well as connect to educational and community resources through the FH Foundation.
FH Foundation. (2017). “Do you know FH?” Retrieved February 13, 2019, from https://thefhfoundation.org/media/FHAD_2017_Infographic-EnglishUSA.pdf?x62576 .
FH Foundation. (2019). “FH Awareness Day Media Kit” Retrieved February 13, 2019, from https://thefhfoundation.org/fh-awareness-day-media-kit.
FH Foundation. (2019). “What is FH?”. Retrieved January 30, 2019, from https://thefhfoundation.org/about-fh/what-is-fh.
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/.