A potentially life-saving pilot program is launching in Bloomington, Illinois to detect a little-known but surprisingly common genetic condition that can dramatically raise cholesterol levels—and the risk of heart attacks and strokes—even in children.

It’s called familial hypercholesterolemia, or FH. It’s estimated that 1 in 200 Americans has the genetic disorder where the body can’t effectively clear LDL or ‘bad’ cholesterol from the blood.

Darrel Gumm, MD, vice president of OSF HealthCare Cardiovascular Institute says the pilot will identify people who, due to their genetics, might not know they are at risk.

“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 stresses. “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.” 

OSF HealthCare and OSF Innovation are using artificial intelligence (AI) to conduct a pilot program for detecting and treating FH. To identify high-risk patients for this pilot, the Digital Innovation Development team used a two-step approach. First, an algorithm flagged patients over the past 18 months who had concerning cholesterol levels. Then, they applied an AI tool to scanned physician notes to detect clues—such as yellowing of the eyes or hardening of the Achilles tendon—signs a doctor may have observed but not flagged as FH-related.

People inherit FH from one or both parents, and it puts them at risk for cardiovascular events far earlier in life than normal, sometimes even in childhood.

Two Types of FH

According to Dr. Gumm, there are two kinds of FH:

• Heterozygous FH, inherited from one parent, which can lead to early heart attacks or strokes—before age 65 in women and 55 in men.
• Homozygous FH, a rarer and more severe form inherited from both parents, which can lead to strokes and heart disease in teenagers or even young children.

While most people begin cholesterol screenings around age 40, those with FH can silently develop sky-high levels from a young age.

"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,” explains Ryan Loudermilk, a strategic program manager in Performance Improvement at OSF Innovation.

The new screening program was launched in Bloomington, starting with support from a strong primary care network involving 9 providers including Richard Ginetti, MD, who is a champion for the effort. It started with 200 patients found to potentially have FH. If testing confirms the diagnosis, individuals will be offered treatment, typically statins, which can reduce cardiovascular risk by up to 80%.

Dr. Gumm says every time someone is identified with FH, outreach will occur to encourage screening for parents, siblings, and children.

“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.” 

Education in a Short-Attention-Span World

Understanding FH—and the importance of early detection—isn’t easy in a world flooded with information. That’s why the pilot program teamed with OSF Innovation’s Medical Visualization team, to create for people identified at possible risk, mobile-friendly education designed to meet people where they are.

Loudermilk emphasizes it’s not just a brochure. The visuals use a unique, semi-animated shimmer effect that adds emotional weight without overwhelming the viewer.

“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.” 

A Simple Test with a Big Impact

The testing process is easy. It’s just a cheek swab with no needles or blood draw. It takes a couple minutes.

The pilot is tracking how many people go on to be screened after the initial outreach with a goal of at least 30%. The initiative will follow not just how many patients test positive, but how many then go on to get family members tested, the true measure of ripple effect success. Additionally, the pilot includes having the Medical Visualization team provide insights about which content drove the most engagement.

The FH pilot is part of a broader effort at OSF HealthCare to advance care through personalized medicine that is specific to a person’s genetic make-up. Loudermilk sees a time in the future where genetic testing will be even easier.

“Where I could see this going – a patient doesn’t even have to come in. These kits could actually be mailed to them, to their house and they could do the check swab themself and get it mailed in. So, those who don’t want to deal with making an appointment and seeing their provider in person, they could do a virtual visit and have the kit sent to them. That’s the future of all of this.” 

If you receive primary care in Bloomington, talk to your provider if you think you would like to be screened for familial hypercholesterolemia.

Dr. Darrel Gumm

Ryan Loudermilk

B-roll-Familial Hypercholesterolemia (FH)

Preston Patton, who was 6 years old at the time, had just taken some medicine and the family was sitting at the kitchen table in their Pekin, Illinois home.

“Suddenly, he just fell off the chair and was limp. You could tell something was wrong,” recalls Shawn Patton, Preston’s father. “I didn’t think it was a stroke, but I just knew something was wrong.”

Shawn called 9-1-1 immediately. Emergency responders arrived within minutes, and Preston was rushed to the hospital. A scan revealed something few expect to see in a child: a blood clot in the brain. Doctors at OSF HealthCare moved quickly to remove the clot — performing a procedure known as a thrombectomy. Preston would go on to become one of the few children in the world to undergo the life-saving intervention.

Preston’s sister, Carter, played a critical role during the crisis — locking up the family dogs and calling their grandparents while Shawn worked with EMTs to get Preston the help he needed.

A devastating diagnosis

Leading Preston’s care was Sourabh Lahoti, MD, a vascular and interventional neurologist with OSF HealthCare Illinois Neurological Institute (INI), in Peoria, Illinois.

When Preston arrived at the hospital, a team of emergency and pediatric doctors quickly realized the severity of the situation. “He had complete paralysis on the left side of his body. No movement was possible, and the vision in his left visual field was lost. He could not move his eyes to the left, either,” Dr. Lahoti explains. “He had the tell-tale signs of a stroke affecting the right side of his brain.”

The CT scan confirmed that a blood clot was blocking critical blood flow to the right side of Preston’s brain. Dr. Lahoti determined there was no time to lose.

“We had to take that clot out. If we hadn’t, then chances are he would have gone on to develop a very big stroke. This would have not only left him paralyzed potentially for the rest of his life, but it could have been life threatening and taken his life,” Dr. Lahoti says.

A rare procedure, a miraculous recovery

While thrombectomies are more common in adult stroke patients, they remain exceedingly rare in children. Preston was one of the first children in the world to have the procedure done.

“By the time we went on to do this procedure of clot removal, which is called thrombectomy, that clot had further traveled down to a smaller blood vessel,” says Dr. Lahoti. “The further out the clot is, the higher the risk it is to get it out. Because we're getting into very tiny blood vessels in the brain. We decided to take that risk and prevent a lifelong disability.”

‘It was truly magical’

“Soon after we removed the clot, we saw a complete reversal of his deficits. It was truly magical to see that,” Dr. Lahoti recalls. “To have him come in with complete paralysis, and then we did this procedure under anesthesia. After the anesthesia was taken off, he woke up and was able to move his left arm and leg again.”

Prior to this type of intervention, patients — especially children — had few choices.

“Before this therapy was available, patients didn’t have options. The usual course was they were left with paralysis for life, and they were never able to live normally again,” says Dr. Lahoti.

A complicated lead-up

The signs of Preston’s illness began about a month before the stroke. He had a bladder infection that turned into a kidney infection, requiring hospitalization just days before Christmas Eve. He was discharged on Saturday — only to return under emergency conditions.

At the time of the stroke, his heart function had dropped to just 10%, his dad says. His doctors believe a rare complication led to his condition.

“In his case, he had gotten the flu. Because of the flu, there was a cross-reaction of the immunity his body built up for the flu,” Dr. Lahoti explains. “His immune system attacked the flu virus, but also his kidneys and heart, too. Because of that, his heart pumping got really weak, and we think that led to the formation of a clot in his heart. The clot then traveled from the heart to his brain.”

Preston’s father adds that his late wife — the children’s mother — tragically passed away from a pulmonary embolism, making the emergency even more challenging emotionally.

Recovery and Hope

Preston spent a couple of weeks in the hospital, but today, he is thriving and he’s back in school. He’s practicing running and riding his bike and is even thinking about his future.

“He goes to OT (occupational therapy) once a week, PT (physical therapy) once a month now. He’s getting along pretty good,” Shawn says.

“My leg is better,” Preston adds.

“Yes, your leg is getting better. Your hand is going to get better, too,” Shawn reassures him.

Preston has received Botox in his left arm to help regain movement, and while he didn’t play baseball this year, his progress continues.

“Riding a bike, it’s hard to hold onto the handlebars and stuff like that. We just got to keep working hard,” Shawn says.

Perhaps most touching of all is the career goal this experience has inspired in Preston.

He now says he wants to become a nurse — because the nurses cared for him so well.

To learn more about stroke care at OSF HealthCare Illinois Neurological Institute, visit the OSF HealthCare website.

Shawn, Preston Patton video interview clips

Dr. Sourabh Lahoti video interview clips

A brand-new technology is available for Chicago area patients living with Atrial Fibrillation (AFib).

FARAPULSE is an FDA-approved cardiac ablation treatment, designed by Boston Scientific, to restore and regulate heartbeats and slow the progression of AFib. Now, it’s available in the newly opened Electrophysiology (EP) Lab within OSF HealthCare Little Company of Mary Medical Center.

It’s referred to as a pulsed field ablation, delivering energy to the cardiac tissue that doesn’t injure surrounding tissue.

“It’s completely selective to the cardiac myocytes we’re targeting to treat AFib,” says Dr. William Spear, the lead electrophysiologist at OSF Little Company of Mary Medical Center in Evergreen Park, Illinois. “You deliver the energy, which only takes two and a half seconds, and it targets just the cardiac cells you're focusing on, those abnormal cells that are causing the Atrial Fibrillation (AFib), and it leaves all the other cells around it untouched."

AFib is very common, affecting around 2.7 million Americans, according to the Delaware Journal of Public Health, with an estimated 160,000 new cases each year. Symptoms of AFib include shortness of breath, heart racing, or if you can’t do activities you used to be able to do. It’s when the normal rhythm of the heart is disrupted, and the top chamber of the heart, called the atrium, begins to quiver. When this happens, it makes the heart beat 300-400 times a minute and also results in a very rapid and irregular heartbeat in the bottom chamber, decreasing the efficiency of the heart pump. This can lead to blood stagnating in the upper chamber, then clots can form, leading to stroke, heart failure, or even death.

Dr. Spear calls the new FARAPULSE service “revolutionary.” He adds all the adjacent tissues like nerves, the esophagus or lungs, won’t be damaged in the procedure.

“For the last 20-30 years, the mainstay of ablation has been radio frequency. Radio frequency is very good, but it's more traumatic to the tissue because you're actually burning the tissue,” Dr. Spear says. “With pulsed field ablation, it really leaves the esophagus untouched. We can ablate around the esophagus where the heart meets the esophagus on the posterior side, without having to worry about this major complication which is called atrial esophageal fistula (AEF). This happens because we're not touching the esophagus, we're only touching cardiac tissue.”

Tracy Jendruczek, the Vice President of Surgical and Procedural Services at OSF Little Company of Mary, says FARAPULSE will help community members in nearby areas living with AFib.

“If patients are experiencing any heart concerns or issues they should see their medical provider. From there, a cardiologist will be able to determine if ablation is appropriate for them. If appropriate, FARAPULSE is just another technique to ablate, to help the heart beat normally,” Jendruczek says. “It's a safer technique in that it preserves tissue around the heart, compared to current techniques being used for ablation.”

“It's a very serious problem that faces millions and millions of patients,” Dr. Spear says. “As we age, it becomes more and more frequent. As you get into the 70–80-year range, about 20-25% of patients will develop atrial defibrillation at some point in their life. It's a very serious problem we face as a society, really.”

Dr. Spear notes that many individuals who have AFib are asymptomatic. He says this is a reminder to keep an eye on your overall health, speak with your medical provider, and schedule an appointment with a cardiologist if recommended by your primary care physician.

The FARAPULSE PFA procedure usually takes less than one hour and allows most patients the ability to return home that day.

Video Interview Clips

FARAPULSE BROLL