By Admera Health on Sep 23, 2019 6:34:32 PM
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.
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 population.1
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.
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.
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 apheresis.3 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.
1) “Early Diagnosis of Familial Hypercholesterolemia Save Lives”, What is Familial Hypercholesterolemia, The FH Foundation, n.d. Web, SEP2019
2) “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