After having children, Jessica Pickett visited her primary care physician at Sanford Health. She wanted to see if there was more that could be done to control her cholesterol levels, which had been high since college.
She wanted to be proactive about this health issue because both of her parents also had high cholesterol. Her father developed congestive heart disease, which led to additional problems with his heart health.
Pickett was referred to Maria Stys, M.D., a cardiologist at Sanford Health. As her care team worked to find a way to control Pickett’s cholesterol levels, she hit a roadblock in insurance coverage that led her to meeting with certified genetic counselor Kristen DeBerg.
During cardiovascular genetic counseling they discussed Pickett’s personal and family history in the search for a possible hereditary condition in the family. After diving into her family tree, DeBerg suspected that Pickett 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,” Pickett said. “And now there’s something that can be done to help my levels.”
Genetic testing confirms the diagnosis
Genetic testing confirmed that she, 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,” Dr. Stys said. “It could decrease life expectancy by up to 30 years.”
This diagnosis also allowed Pickett to be prescribed specific cholesterol medication. Designed for people with inherited high cholesterol, the medication has significantly lowered her cholesterol levels.
“It’s a truly wonderful thing that we can use genetics to save people’s lives,” Dr. Stys said. “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. A blood test is the only way to tell if cholesterol levels are high. Genetic testing is the only way to know whether a patient has inherited high cholesterol.
“There was no indication I had any heart problems,” Pickett said. “So to me, it felt like a hidden disease.”
Her son has also been screened, revealing that his cholesterol is also high, even at only 8 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,” Pickett said.
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Posted In Genetics, Health Information, Heart