Peoria Standard

A pilot program has started in Bloomington, Illinois, to identify and treat familial hypercholesterolemia (FH), a genetic disorder that raises cholesterol levels and increases the risk of heart attacks and strokes. The initiative is led by OSF HealthCare and OSF Innovation, who are using artificial intelligence to detect individuals at risk for FH.

FH affects about 1 in 200 Americans. Many people with the condition are unaware they have it because symptoms can go unnoticed until a cardiovascular event occurs. Darrel Gumm, MD, vice president of OSF HealthCare Cardiovascular Institute, highlighted the need for early detection: “It’s estimated about 1.3 million people in the United States have it [FH] and 90% of those patients don’t know they have it," Dr. Gumm said. "So, it’s a tremendous opportunity for us to step in and find those patients, identify those patients and provide therapies that may prevent terrible things from happening down the road.”

The pilot uses a two-step process to find high-risk patients. First, an algorithm reviews cholesterol levels from the past 18 months. Then an AI tool scans physician notes for physical signs such as yellowing of the eyes or hardening of tendons that might indicate FH but were not flagged as such.

There are two types of FH: heterozygous FH is inherited from one parent and can cause early heart attacks or strokes; homozygous FH is inherited from both parents and can lead to severe cardiovascular events even in teenagers or children.

Ryan Loudermilk, strategic program manager at OSF Innovation, noted that people with FH can appear healthy despite having very high cholesterol: "They can be a very healthy person, think they’re doing great, be a marathon runner and really they could have astronomically high cholesterol that’s not of their fault,” he explained.

The screening program began with support from nine primary care providers in Bloomington, including Richard Ginetti, MD. Two hundred patients identified as potentially having FH will undergo testing via cheek swab—a simple procedure requiring no needles or blood draws.

If diagnosed with FH, patients will be offered treatments such as statins which may reduce cardiovascular risk by up to 80%. Dr. Gumm emphasized family outreach: every time someone is identified with FH, relatives will be encouraged to get screened too.

“One of the things I love to tell my patients is the best way to treat a heart attack is not have one. Same thing with a stroke. So, even if they’ve had a heart attack and survived it, now we’re going to be aggressive at not letting the second one occur. But here’s a chance to never let it occur in the first place. It’s primary prevention … really fantastic,” Dr. Gumm said.

To improve education about FH risks and testing options among busy patients, OSF Innovation's Medical Visualization team developed mobile-friendly materials featuring semi-animated visuals designed for quick understanding on cell phones.

Loudermilk explained: “It’s something that can be easily read on their cell phone; they don’t have to log onto a computer. It’s something that’s eye-catching, something that’s straight to the point – what your risks are, why it’s important for you to get tested and checked … thinking about family members, so it speaks to that. It speaks to the ease of this. That’s the other big piece of this.”

The pilot aims for at least 30% participation after initial outreach and will track how many diagnosed individuals prompt family members also to get tested—an important measure of broader impact.

This effort forms part of OSF HealthCare's wider move toward personalized medicine based on genetic information. Looking ahead at future possibilities for easier access Loudermilk said: “Where I could see this going – a patient doesn’t even have to come in. These kits could actually be mailed to them... So those who don’t want to deal with making an appointment...could do a virtual visit...That’s the future of all of this.”

Residents receiving primary care in Bloomington are encouraged to speak with their provider if interested in being screened for familial hypercholesterolemia.