By Patrick Sofarelli on Sep 23, 2019 6:34:32 PM
September is a Time For Back to School, Cooler Temps, Autumn Foliage – and Talking to Your Patients About Their Cholesterol: September is National Cholesterol Education Month
Despite having a world of resources at their fingertips, patients are often bewildered about getting informed on their own health. Knowing where to find trusted data and making sense of it can be insurmountable barriers for many. In the end, most people prefer to trust their doctors, especially with information critical to quality of life and longevity, such as cardiovascular health.
With September designated as National Cholesterol Education Month, we at Admera Health want to help health care providers inform patients on cholesterol and how to manage associated risk.
What Are The Risk Factors for Elevated Cholesterol Levels, Including Genetics?
It’s useful to separate factors that patients can control - such as diet, lifestyle, smoking, environment and existing health conditions – from ones they can’t, such as age, gender and inherited genetic factors.
Providers are well versed in coaching patients on controlling lifestyle factors to lower cholesterol levels and control atherosclerosis risk. Advising on diet, smoking, physical activity, weight management and medication compliance all remain vital parts of reducing risk. However, there are uncontrollable genetic components that predispose a person to early atherosclerosis and resulting coronary heart disease.
Genetics play a role in several inherited conditions that adversely impact an individual’s ability to metabolize cholesterol. Hyperlipidemia, lipodystrophy and maturity-onset diabetes of the young (MODY) all have strong inherited components that make an individual susceptible for early atherosclerosis. A comprehensive evaluation of genetic mutations responsible for these disorders can help confirm diagnosis in patients with signs of early atherosclerosis (men < 55 years old and women < 65 years old) and guide proper clinical management of patients.
Another inherited genetic condition, Familial Hypercholesterolemia (FH), is also part of the discussion. FH predisposes a person to generate high levels of LDL at a young age that puts them at higher risk of atherosclerosis. FH is an autosomal dominant disorder, meaning the patient only needs one of their two copies of the gene to be mutated (heterozygous FH). A parent with a pathogenic variant for the FH gene has a 50% chance of passing on the condition. Having someone in family lineage that suffered a heart attack at a relatively young age (men below 50 years of age/women below 60 years of age) could be an indicator that a genetic defect is present. A man with FH has a 50% chance of having a heart attack before the age of 50. FH affects nearly 1 million US adults, either confirmed or probable cases, or about 1 in 250 people in the general population1.
What Individuals Should Get Better Informed on Familial Hypercholesterolemia (FH)?
Any patient with knowledge or suspicion of a family member who suffered a heart attack at an early age is encouraged to investigate their risk for an inherited genetic condition, such as FH. Other major signs of familial hypercholesterolemia are high levels of total cholesterol and low-density lipoprotein (LDL) cholesterol, elevated and therapy-resistant levels of LDL in either or both parents, xanthomas (waxy deposits of cholesterol in the skin or tendons) or angina occurring at an early age2.
Building Awareness: International FH Awareness Day, September 24
To promote a healthy dialogue on FH, and in concert with National Cholesterol Education Month, September 24 has been designated International FH Awareness Day by the FH Foundation. The FH Foundation has broadcasted this message since 2012 through various channels to reach international audiences.
Building awareness is a critical first step, but once medical or family history suggests genetic factors are present, it’s important to advise patients on genetic testing to better determine their own risk and what family members may be impacted as well.
Admera Health’s Genetic Test, AtheroGxOneTM, Can Provide Valuable Insight Into Familial Hypercholesterolemia and Other Inherited Lipid Disorders
When genetic predisposition is suspected, AtheroGxOneTM can provide insight. It detects genetic mutations within a select group of 104 genes that affect plasma levels of lipids (total cholesterol, LDL, HDL and triglycerides) and blood sugar which indicate FH, as well as other lipid disorders. A comprehensive report is generated and interpreted by some of the leading cardiologists in the world, which can determine your patient’s risk for FH or other dyslipidemia, or confirm a suspected diagnosis. Knowing risk for a genetic lipid disorder can help you coordinate the medical attention necessary to reduce that risk, from first steps such as diet or statin therapy to more aggressive treatment, such as periodical LDL apheresis3. The knowledge gained through genetic testing ultimately can help patients live a longer, healthier life, and identify family members for testing who may be disposed to FH.
More Information for Patients
There is a wealth of trusted information you can provide to patients to assist their investigation into healthy cholesterol management.
From the Centers for Disease Control, the links below offer useful information on specific topics:• Heart Disease
• Aortic Aneurysm
• High Blood Pressure
• The Scoop on Statins
Additional links below can also help patient research various topics related to cholesterol:• Cholesterol—American Heart Association
• Dietary Guidelines for Americans 2015–2020—U.S. Department of Agriculture
• Family Hypercholesterolemia—U.S. National Library of Medicine
• Fats and Cholesterol—U.S. Department of Agriculture
• Take Action, Live Healthy! My Cholesterol Guide—American Heart Association
• Your Guide to Lowering Your Cholesterol With TLC Cdc-pdf[PDF-1.7 MB]—National Heart, Lung, and Blood Institute
• High Blood Cholesterol: What You Need to Know—National Heart, Lung, and Blood Institute
About the Author:
Patrick is a Senior Product Manager at Admera Health who oversees the cardiovascular health portfolio. He has undergraduate degrees in finance and chemistry, and an international MBA from IESE in Barcelona. Patrick has worked in pharmaceutical, medical device and diagnostic sectors, in different functional capacities: chemist, sales, marketing and product manager. He can be reached at firstname.lastname@example.org or 908-222-0533 ext. 3923.
1) “Early Diagnosis of Familial Hypercholesterolemia Save Lives”, What is Familial Hypercholesterolemia, The FH Foundation, n.d. Web, SEP20192) “How is familial hypercholesterolemia diagnosed?” About Familial Hypercholesterolemia, National Human Genome Research Institute, December 26, 2013, Web, SEP2019
3) “Treatment of FH”, Familial Hypercholesterolemia, American Heart Association, April 30, 2017, Web, SEP2019