September is National Cholesterol Education Month! We’d like to take this time to highlight a common genetic disorder that is highly underdiagnosed – Familial Hypercholesterolemia.
What is Familial Hypercholesterolemia (FH)?
Familial Hypercholesterolemia, or FH, is a common genetic disorder, affecting approximately 1:250 men, women, and children of all races and ethnicities, or 30 million people worldwide. It is also severely under-diagnosed with only around 10%-20% of affected individuals identified as having FH. FH causes dangerously increased levels of low-density lipoprotein cholesterol, also known as LDL or the “bad cholesterol” from birth. The large amount of LDL over time significantly increases the risk for cardiovascular disease at a young age. The most common symptom is coronary artery disease (CAD). Untreated CAD may cause chest pains and/or heart attacks and can lead to the need for stents or coronary artery bypass surgery. According to the FH Foundation, an untreated man with FH has a 50% risk for heart attack by age 50 and an untreated woman has a 30% risk of heart attack by age 60.
For those with FH, a heart healthy diet and regular exercise (while extremely important) isn’t enough to treat the condition. However, early detection and treatment with LDL-lowering medications can help keep LDL in control and lower the risk for cardiovascular disease. It is currently recommended that individuals with a family history of FH or early heart disease or stroke have cholesterol testing at 2 years old and that FH therapy is initiated at 8-10 years old if a child is diagnosed with FH. Because this condition is so widely underdiagnosed, it is also recommended that all children should have a cholesterol test between the ages of 9-11 and again between the ages of 17-21, regardless of family history. Testing cholesterol in children will help to improve the early diagnosis of FH and may even help find parents with undiagnosed FH.
Supporting Individuals with FH
While there are many organizations focused on increasing heart health, there is a nationally respected organization focused solely on the research, advocacy and education of FH. The FH Foundation® is a non-profit organization whose mission is to raise awareness of FH in order to increase the rate of early diagnosis and encourage proactive treatment. Their efforts include the national CASCADE FH® Registry, FIND FH® (a machine-learning approach to identify probable FH patients), and an annual FH Global Summit™. The FH Foundation provides services to help people navigate their journey from diagnosis to lifetime management. It has built a community of individuals with FH who share their stories to raise awareness of FH. Their website has an extensive library of educational materials for patients and families about the condition, diagnosis, treatments, and ways to get involved. They also provide educational materials for healthcare providers. The FH Foundation moderates several support groups for patients and their family members/caregivers. Learn more about the FH Foundation and the work they are doing to improve the lives of those with FH at: https://thefhfoundation.org/.
FH Awareness Day – Helping Everyone #KnowFH
September 24 is Familial Hypercholesterolemia (FH) Awareness Day! The FH Foundation has developed a toolkit to help you raise awareness for FH by sharing information on social media. Check out their prepared social media posts, profile frames, infographics and videos at: https://thefhfoundation.org/
One of the most important things you can do to help increase the awareness of FH is to talk to your doctor in order to make sure that you and your family members have received the recommended cholesterol screening at appropriate ages. Many people assume that this is included in their routine health screenings, but that is not always the case! If it comes back high, make sure to follow up. A simple blood test can potentially help save your life or the life of a loved one. Don’t delay because #FHCantWait!
As always, talk to your doctor about any information presented in this article, in any listed websites, and with any questions you may have about your family’s care.
- Familial Hypercholesterolemia | FH Foundation. (2020, March 27). The FH Foundation. https://thefhfoundation.org/
- Overview: What is familial hypercholesterolemia? ThinkGenetic. (n.d.). https://www.thinkgenetic.com/
diseases/familial- hypercholesterolemia-109927/ overview/66491.
About Jessica Dronen, MS, LCGC. Jessica is a Genetic Diseases Research and Information Specialist for ThinkGenetic, Inc. She received her Master of Science in the field of Genetic Counseling at the University of Oklahoma Health Sciences Center in 2016. She has worked with both pediatric and adult patients in a variety of areas. Away from work Jessica enjoys reading memoirs, making music and spending time outside with her family.