Familial Hypercholesterolemia: The Common, Inherited Cause of Heart Disease Rarely Talked About

Family TreeSeptember is National Cholesterol Education Month, and it’s a great time to raise awareness about a little known but very common condition called familial hypercholesterolemia (FH). FH is a common cause of heart disease due to lifelong high LDL cholesterol levels. LDL, which stands for low-density lipoprotein, is the “bad” cholesterol. It’s estimated that one out of every 200 or 300 people in the United States has FH, yet 90 percent don’t know they have it. It’s especially important for people with a family history of heart disease and high cholesterol to talk to a genetic counselor about testing options for FH. Diagnosing FH and treating it at a young age can help people significantly reduce their risk of heart disease.

As one of the first cardiovascular genetic counselors in the country, I’ve worked with patients and their families with hereditary forms of heart disease for more than 10 years. However, despite how common and manageable FH is, I could count on one hand the number of patients I’ve seen with it. Then, a few years ago, I met Christian Jacobs. Christian is a phenomenal person who has a rare form of FH caused by two mutations, one he inherited from his mother and one from his father. This is called Homozygous FH.  Around the same time I met Christian, a new patient-centered nonprofit organization dedicated to education, advocacy, and FH research was born: The FH Foundation

Christian is a former FH Foundation Board Member and his story, like those of many others including The Foundation’s founder and president, Katherine Wilemon, continue to inspire me to get involved in the fight against FH, which we consider winnable. Since the formation of the foundation, I’ve seen awareness raised about this condition, but still, more needs to be done.

In my role as a genetic counselor, I help patients and families understand the way FH is inherited, coordinate genetic testing, facilitate screening for family members and provide tools to help families communicate about FH.

The most common type of FH is called heterozygous FH. The condition is caused by a genetic predisposition inherited from one parent. A man with untreated heterozygous FH has a 50 percent chance of developing heart disease by age 50 and a woman has a 30 percent chance of developing heart disease by age 60. Also, there is a 50 percent chance their parent, siblings, and children (first degree relatives) have FH.

What Are the Signs of Familial Hypercholesterolemia  

In my role as a genetic counselor, I help patients and families understand the way FH is inherited, coordinate genetic testing, facilitate screening for family members and provide tools to help families communicate about FH.

People with FH may feel healthy and still have the disease. Because of this, screening for high cholesterol is recommended for everyone. The National Lipid Association (NLA) recommends that FH should be suspected when the untreated fasting LDL cholesterol is at or above 190 in adults age 20 or older, and at or above 160 in those under 20. Talk with your doctor to determine if you would benefit from meeting with a genetic counselor to discuss FH testing.

Many parents and pediatricians may not be aware that there are guidelines for universal cholesterol screening for all children ages 9-11 sponsored by the NLA and the National Heart, Lung and Blood Institute (NHLBI) and endorsed by the American Academy of Pediatrics (AAP). For children with a family history of early onset heart disease or high cholesterol, screening should be considered starting at age 2. If you or your child have high levels, your family history should be collected and assessed for signs of FH.

There are also signs to watch for in your family health history. They include:

  • Heart disease at a young age (younger than 55 in men, 65 in women). This includes heart attack and coronary heart disease.
  • High cholesterol in multiple family members. 
  • Sudden death in a family member who seemed healthy. This may have been due to underlying heart disease.
  • Family members with FH and physical signs of FH. These include a soft tissue mass on a tendon caused by cholesterol deposits called a xanthoma and a grayish-white ring on the cornea due to lipid infiltration known as a corneal arcus. These, however, are often not present in people with FH so the absence of physical signs does not mean someone doesn’t have it.

Cascade Screening for FH

The Centers for Disease Control Office of Public Health Genomics has made testing of relatives of FH patients a priority with a process called cascade testing. It begins with first degree relatives and extends to second and third degree relatives until all people in a family have been tested. This process is critical for families with FH as it facilitates early detection and treatment. Genetic testing is also available to confirm an FH diagnosis. If the FH-causing mutation has been found in a family, genetic testing can also be used to identify all family members with FH.

The FH Foundation has also launched an initiative called FIND FH, which uses advanced technologies to search electronic medical records and other databases to find patients who likely have FH, and engage individuals’ healthcare providers so newly diagnosed patients and families can be treated and reduce their risk for heart disease.


Knowing you have FH can be life-saving. If you think you have FH, talk to your doctor.  You can also find an FH specialist in your area by visiting the FH Foundation’s Find an FH Specialist Map and by using the Find a Lipid Specialist Tool on the Foundation of the NLA’s website.  If you’re interested in learning more about genetic testing options or your inherited risk for FH, you can connect with a genetic counselor in your area by using NSGC’s Find a Genetic Counselor tool.

Amy Sturm, MS, CGC, LGC is the National Society of Genetic Counselors 2018 President-elect and cardiovascular genetics expert.  She is a professor, genetic counselor and Director of Cardiovascular Genomic Counseling at Geisinger, as well as Co-Director of the MyCode Genomic Screening and Counseling Program.

Recent Stories
Genetic Counseling is a Career for All – An Interview with Benjamin Helm

December 2020 President’s Letter: Evolution of Thought

All Children with Cancer and Adult Survivors of Childhood Cancer Should Consider Genetic Testing

NSGC Executive Office   |   330 North Wabash Avenue, Suite 2000, Chicago, IL 60611   |   312.321.6834   |   nsgc@nsgc.org
© 2021 National Society of Genetic Counselors   |   Privacy Policy   |   Disclaimer   |   Terms and Conditions   |   DMCA Procedures for Removal