The Genetics of High Cholesterol


By Advertiser Sanford Health

After having children, Jessica Pickett went to her primary care physician at Sanford Health to see if there was more that could be done to control her cholesterol levels, which had been high since college. Jessica wanted to be proactive about this health issue because both of her parents also had high cholesterol and her father developed congestive heart disease, which has led to many additional problems with his heart health.

Jessica was referred to Maria Stys, MD, cardiologist at Sanford Health. As her care team worked to find a way to control Jessica’s cholesterol levels, she hit a roadblock in insurance coverage that led her to meeting with certified genetic counselor Kristen DeBerg.

During genetic counseling they discussed Jessica’s personal and family history in the search for a possible hereditary condition in the family. After diving into Jessica’s family tree, Kristen suspected that she might have familial hypercholesterolemia, or FH, the most common cause of inherited high cholesterol.
“Meeting with Kristen was a great opportunity to find out that it wasn’t my lifestyle decisions that impacted my cholesterol, but my genetics,” Jessica says. “And now there’s something that can be done to help my levels.”

Genetic testing confirmed that Jessica in fact did have the genetic disorder FH. This meant mutations in her genes made her body unable to remove excess LDL cholesterol.

“It causes super high levels of bad cholesterol in the bloodstream, which, if untreated, will lead to premature cardiovascular disease or premature heart attacks,” explains Dr. Stys. “It could decrease life expectancy by up to 30 years.”

This diagnosis allowed for Jessica to be prescribed specific cholesterol medication for individuals with inherited high cholesterol that has been very successful in lowering Jessica’s cholesterol levels.

“It’s a truly wonderful thing that we can use genetics to save people’s lives,” Dr. Stys says. “This will not only help Jessica, but we can help her children and other family members by screening them and, if diagnosed with FH, apply early intervention and hopefully prevent them from developing premature cardiovascular disease.”

 High cholesterol levels don’t necessarily make patients feel sick, so a blood test is the only way to tell if cholesterol levels are high and genetic testing is the only way to know whether or not a patient has inherited high cholesterol.

“There was no indication I had any heart problems,” Jessica says. “So to me it felt like a hidden disease.”

Jessica’s son has now also been screened, revealing that his cholesterol is also high, even at only eight years old. With the help of genetic testing, the family is being proactive about his future heart health.

“We wouldn’t have any idea that we had heart problems in our family if it wasn’t for the genetics testing,” Jessica says.

 Learn more about cardiovascular genetic counseling at

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