The Effect of Genetics on Individual Heart Health: Early Identification of FH Variations to Optimize Treatment
All tests must be ordered by a physician and all results will be sent to the ordering physician. HNL/CTGT does not provide Direct-to-Consumer testing.
Familial hypercholesterolemia (FH) is a genetic disorder that is characterized by abnormally high blood levels of low-density lipoprotein (LDL) cholesterol, sometimes referred to as "bad cholesterol". This condition affects an estimated 1 in 250 people, and increases the likelihood of developing cardiovascular disease. In fact, FH is estimated to be the cause of 2-3% of heart attacks in individuals younger than age 60. For people with FH, exercising and healthy eating habits are important, but often not enough to lower their cholesterol to a healthy level. Rapid identification of certain genetic variants that cause increased levels of LDL cholesterol can be imperative for clinical treatment and outcome.
In an effort to better serve the Lehigh Valley community, HNL is now offering a comprehensive genetic testing panel for the four genes most commonly associated genes with FH: APOB, LDLR, LDLRAP1, and PCSK9. These genes affect how the body regulates and removes cholesterol from the blood. Identification of a disease causing variant - sometimes referred to as a mutation - in one of these genes can help physicians to better manage their patients with high cholesterol caused by FH. Modification of diet and lifestyle factors, as well as certain cholesterol-lowing drugs can help reduce the risk for complications from FH. Additionally, patients who test positive for a disease-causing variant in the PCSK9 gene may be candidates for a certain class of drug called PCSK9 inhibitors, which work to reduce LDL cholesterol levels in the blood by blocking the mutated PCSK9 protein.
The majority of FH cases are inherited in an autosomal dominant manner. To illustrate this concept, let us look at the LDLR gene, the most common known genetic cause of FH. The job of the LDLR gene is to carry LDL cholesterol out of the blood, which is necessary to reduce the risk of cardiovascular disease. Each of us possesses two copies of the LDLR gene, inheriting one copy from our mother, and the second copy from our father. When one copy of LDLR has a disease-causing variant, the gene does not function as it should. As a result, cholesterol cannot be cleared from the blood as effectively and builds up over time, leading to an increased risk in cardiovascular disease.
The usefulness of genetic testing is not just limited to those who have high cholesterol. If a genetic variant known to cause FH is identified in a patient, their family members - including children, siblings, and parents - could all be at risk to have FH. For individuals with an LDLR disease-causing variant, the risk of passing this variant to their child is 50%. Family members of an individual with a genetic diagnosis of FH should be encouraged to have genetic testing, even if they have not yet developed symptoms of FH.
The CDC indicates that FH poses a substantial public health burden, and clear guidelines for management and prevention are available. Proactive treatment of FH has been shown to reduce the risk of heart disease by as much as 80%. For example, children who are at risk for FH are encouraged to have their lipid levels checked before age 10, as certain cholesterol lowering medicines can be used in children starting around 8 years of age. This can help reduce the likelihood of cardiovascular events due to high LDL cholesterol.
Early intervention is one of the best ways to increase a patient's positive clinical outcome. Identification of a disease-causing genetic variant for FH can alter a patient's care to be more precise, as well as refine the risk of developing high cholesterol for family members.
While the benefits of FH testing are clearly actionable, partnering with HNL Lab Medicine’s CTGT Genetic Testing division provides its own list of advantages. As a preferred Populytics laboratory, local patients may be more likely to have this testing covered by insurance. In addition, our state-of-the-art medical laboratory is local to the Lehigh Valley, based in Allentown, PA.
Operating for over 20 years, HNL Lab Medicine is a leading multi-regional, full-service medical laboratory providing testing and related services to physician offices, hospitals, long-term care facilities, employers and industrial accounts. HNL Lab Medicine works with more than 10 hospital systems, including Lehigh Valley Health Network. Each year, HNL Lab Medicine generates more than 60 million clinical and anatomic pathology results for approximately 3 million patients and 12,000 healthcare providers.
If you’d like more information on Familial hypercholesterolemia (FH) genetic disorder testing, or are looking for a partner for you genomics or laboratory testing needs, contact us, 877.402.4221.
Centers for Disease Control and Prevention. (2022, February 10). Familial hypercholesterolemia. Centers for Disease Control and Prevention. Retrieved February 15, 2022, from https://www.cdc.gov/genomics/disease/fh/FH.htm
FH diagnosis, management and family screening. The Family Heart Foundation. (2021, December 2). Retrieved February 15, 2022, from https://thefhfoundation.org/diagnostic-criteria-for-familia-hypercholesterolemia2
Youngblom, E., Pariani, M., & Knowles, J. M. (2016, December 8). Familial hypercholesterolemia. GeneReviews® [Internet]. Retrieved February 15, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK174884/
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