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Familial Hypercholesterolemia or FH is a condition that can be passed down from parent to child. It can lead to high levels of the bad cholesterol, LDL, which means a higher risk of heart disease earlier in life. More than one million people living in the U.S. have FH, but only about 10% of them know. This is because there are usually no obvious signs of having high cholesterol. FH is likely responsible for around 5% of heart attacks in people under the age of 60.

More about familial hypercholesterolemia

People with FH have a much higher chance of having heart disease earlier in life. By the age of 50, men* with untreated FH have around a 50% chance of having heart problems such as a heart attack. Women* with untreated FH have around a 30% chance of having heart issues by age 60. This is because they have high levels of LDL, the “bad” cholesterol, in their blood. People with FH usually need to take medication to lower their cholesterol and can’t control it by diet or exercise alone.

Around 1 in 250 people in the U.S. have FH. This translates to more than one million people.

What can be done about familial hypercholesterolemia?

There are things that people with familial hypercholesterolemia can do to reduce their chances of developing heart problems. Usually they need to take statins, a type of medication that helps lower LDL cholesterol. Though diet and exercise alone are rarely enough to deal with this inherited form of high cholesterol, it is still important to lead a healthy lifestyle.

How is familial hypercholesterolemia passed down?

People who have FH most likely got it from one of their parents. This means that at least one of their parents probably has FH too.

Each child of someone with FH has a 50% chance of having FH. Any full brothers and sisters have a 50% chance of having FH as well.

Here is how the inheritance works in most cases: A person has two copies of most of their genes, one from each parent. To have FH, they would only need to inherit a difference in their DNA linked to FH from one of their parents. This type of inheritance is called autosomal dominant inheritance.

What does the test offered through AncestryHealth® look at?

AncestryHealth®, powered by next-generation sequencing, can detect over 90% of the DNA differences, or variants, in three genes that are linked to FH: LDLR, APOB, and PCSK9.

What do these genes do? Genes have the instructions for making proteins. Proteins are the molecular machines that get things done in the body.

Removing LDL cholesterol from the blood takes many proteins all working together. Each of the three genes involved in FH has the instructions for one of these proteins.

  • LDLR makes a protein that grabs hold of the cholesterol to take it out of the blood.
  • PCSK9 makes a protein that helps to recycle the LDLR protein, the protein that grabs LDL cholesterol out of the blood.
  • APOB makes a protein that helps cholesterol stick to the LDLR protein.

 

*Assigned sex at birth

 

AncestryHealth® includes laboratory tests developed and performed by an independent CLIA-certified laboratory partner, and with oversight from an independent clinician network of board-certified physicians and genetic counselors. The test results are not diagnostic and do not determine your overall chance of developing a disease or health condition. The tests are not cleared or approved by the U.S. Food and Drug Administration. You should consult a healthcare provider before taking any action based on AncestryHealth® reports, including before making any treatment, dietary, or lifestyle changes. AncestryHealth® is not currently available in New York, New Jersey, or Rhode Island.

 

Selected references:

  • Foundation of the National Lipid Association. Accessed August 21, 2019. www.learnyourlipids.com/index.php
  • Gidding SS, Champagne MA, De ferranti SD, et al. The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. Circulation. 2015;132(22):2167-92.
  • The FH Foundation. Accessed August 21, 2019. thefhfoundation.org
  • Versmissen J, Oosterveer DM, Yazdanpanah M, et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ. 2008;337:a2423.
  • Youngblom E, Pariani M, Knowles JW. Familial Hypercholesterolemia. 2014 Jan 2 [Updated 2016 Dec 8]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.