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Geisinger becomes the first member of Risant Health

It could be linked to lifestyle choices or a genetic condition called FH

Knowing your family’s cardiovascular health history is crucial for maintaining your own best health. Has anyone in your family experienced a heart attack, needed a stent or undergone bypass surgery before 55 years of age? Chances are, high cholesterol was to blame.

For most people, high cholesterol is caused by eating too many cholesterol-rich foods and not getting enough exercise. But some people are born with a genetic condition that can cause cholesterol levels to rise. Familial hypercholesterolemia, also called FH, is inherited and affects the way your body processes LDL cholesterol — the “bad” cholesterol that can put you at a higher risk for coronary heart disease leading to a heart attack or stroke. 

“If your LDL cholesterol level is higher than 190 mg/dL and doesn’t change with diet and exercise, and if you have a family history of premature cardiovascular disease, there’s a strong chance you have inherited FH,” explains Caroline deRichemond, CRNP, cardiology advanced practice provider at Geisinger Wyoming Valley Medical Center. “I have a patient who started seeing me when he was 24. His grandfather died of a heart attack at age 42, and his father had six bypass surgeries before the age of 35. He’d been taking statins since his teenage years. I gave him a clinical diagnosis of FH, and he had genetic testing to confirm it. It took his statin therapy, a healthy lifestyle and an injectable medication to bring his LDL to goal. Now seven of his family members are being treated for FH with statins and injections and won’t live the legacy of early cardiovascular disease that their ancestors faced.”

Advances in medicine mean there are treatment options to lower your risk of developing cardiovascular disease that were not available to past generations as well as new, more precise ways of diagnosing FH through genetic testing.

Diagnosing FH: genetic testing gives you answers

If your healthcare provider suspects FH, you may be referred to a genetic counselor for testing. The test itself is simple — a blood sample or cheek swab is all that’s needed. 

“FH is most commonly caused by a mutation in one of three genes: PCSK9, APOB and LDLR,” says Amy Sturm, a certified and licensed genetic counselor and director of Cardiovascular Genomic Counseling at Geisinger. “If the mutation for FH is found, siblings and children will have a 50 percent chance of having the same genetic mutation, and we know to work with other family members to control their risk.”

Geisinger is one of the few healthcare systems in the region with a dedicated team of genetic counselors to educate patients about inherited conditions. Patients and family members are then treated by a multidisciplinary team, which includes their primary care doctor, cardiology doctors, pharmacists and nutritionists to keep symptoms under control and — in the best cases — keep them from occurring.

Men who aren’t treated for FH are at a 50 percent risk for serious heart problems by age 50, and untreated women are at a 30 percent risk by age 60. According to Ms. Sturm, an estimated 1 in 250 adults has the FH genetic mutation. “But thanks to advances in genomics and the advent of personalized precision medicine, it’s easy to determine if you’re at risk and take the necessary steps to manage this and other inherited conditions,” she says.

In addition to being a leader in genetic counseling, Geisinger has been collecting and analyzing DNA samples through the MyCode® Community Health Initiative for over a decade. This innovative program looks for gene mutations that indicate increased risks for various types of cancer, autism spectrum disorders and other inherited conditions such as FH. 

Treating FH for you and your loved ones

“You don’t think of children as having high cholesterol, but since FH is an inherited condition, adults and kids are equally affected,” says Ms. deRichemond. “Eating right and exercising are especially important for families with FH. Healthy lifestyle choices combined with the right medical treatments can make all the difference.”

If you have FH, the plan to reduce your chance of a future heart attack or stroke might involve:

  • Checking for high cholesterol, which should start as early as age 8 for anyone at risk 
  • Using medications to lower your cholesterol levels
  • Controlling other risk factors for diseases like high blood pressure and diabetes
  • Adopting healthy habits such as a heart-healthy diet, regular exercise and not smoking
  • Undergoing medical tests to look for existing heart or blood vessel disease

Next steps:

Get care for high cholesterol
Find a heart care specialist
Sign up for MyCode

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