Patient Impact, Vitals Magazine Fall 2025

Catching a
Silent Killer

An underdiagnosed genetic condition puts 34 million people unknowingly at risk of deadly heart attacks by age 30. An innovative diagnosis protocol could change that.

Doctor checking a patient's vital signs while another provider observes.

Cardiologist Kerrilynn Hennessey, MD, with a patient. Credit: Mark Washburn

Published: 
By Mara Johnson-Groh
3 min read
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Suffering a heart attack in your 30s may seem like bad luck. But for some families, like Terry Sturke’s, it’s commonplace. On Sturke’s father’s side, many family members have died in their 30s. In cases like these, the cause is not misfortune or unhealthy habits, it is genetics.

Familial hypercholesterolemia (FH) is an inherited disorder that affects some 34 million people worldwide. It’s caused by a mutation in a gene that controls how cholesterol is cleared from the body. FH can be managed with cholesterol-reducing medications, but if left untreated, FH causes bad cholesterol levels to skyrocket, starting from birth, increasing the risk for heart disease up to 20 times. While FH can manifest in anyone with the mutated gene, it is significantly more common in New England, as individuals of French-Canadian ancestry are more likely to have inherited FH.

“If it’s diagnosed and treated particularly early in life, you see that patients have the same life expectancy as any other person, as long as we control their cholesterol,” says Kerrilynn Hennessey, MD, cardiologist at Dartmouth Health’s Dartmouth Hitchcock Medical Center (DHMC) and assistant professor at the Geisel School of Medicine at Dartmouth. “But if we don’t, then people can start having heart attacks in their 30s and 40s.”

Yet 90% of people with FH are oblivious to their condition. To increase diagnoses and awareness, Hennessey, along with fellow cardiologist Mary McGowan, MD, launched the TREAT-FH pilot project at Dartmouth Health with support from The Susan and Richard Levy Health Care Delivery Incubator, a joint venture between The Dartmouth Institute for Health Policy & Clinical Practice and the Department of Community and Family Medicine at Dartmouth Health to support the development of innovative healthcare delivery solutions.

Hennessey and McGowan, along with a diverse group of collaborators, developed an innovative protocol that leveraged a machine learning model developed by the Family Heart Foundation to go through anonymized patient records looking for evidence of FH, a prohibitively time-consuming task for a human. When the algorithm identified an FH pattern, the team deanonymized the patient’s record and scrutinized their full medical history. Ultimately, this protocol identified 61 previously undiagnosed people who were likely to have FH as well as 16 additional patients with other types of high-risk indicators. The team reached out to each patient to confirm the diagnosis and begin treatment.

“I had some patients say to me, ‘I finally understand my family’s curse where everyone was dying young of heart disease,’” says McGowan, who has since retired from Dartmouth Health.

The TREAT-FH program ran from 2021 to 2024 at Dartmouth Health, and has also been implemented at five other medical institutions. Hennessey and her team are now exploring sustainable ways to continue to improve FH awareness for Dartmouth Health’s patient population. Since parents with FH have a 50% chance of passing FH on to their children, programs like TREAT-FH can also create cascades of diagnoses beyond the patients initially identified.

When you identify a person with FH, you identify their whole family.

Kerrilynn Hennessey, MD, cardiologist

“When you identify a person with FH, you identify their whole family,” Hennessey says, noting that on average, eight other family members are identified following the first diagnosis.

Early identification is essential for helping people manage their FH. Sturke, who is an advocate with the Family Heart Foundation and served as a patient advisor to the TREAT-FH team, was first diagnosed at a young age after her sister, a teenager at the time, was diagnosed following the development of cardiac chest pain. With innovative tools like TREAT-FH, more families like the Sturkes can be identified and treated. Over the years, Sturke’s sister has taken medications, received therapy, and undergone bypass surgery to treat her FH.

“My sister, who never thought that she would see 40, recently turned 80,” Sturke says. “And she’s still going strong.”

To learn more about heart and vascular care at Dartmouth Health, contact Elizabeth Dollhopf-Brown at 603-646-5792 or Elizabeth.Brown@hitchcock.org.

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