Stanford Medicine Newsletter Updates For the Local Community
 

 

Living with a high-cholesterol gene

Ccott Radabaugh and his children are diligent about eating well and taking their medications to keep their cholesterol levels down.

   

Scott Radabaugh is just 47, but he lives with the knowledge that his heart could give way at any time.

“It’s almost like having a loaded gun pointed at your chest all the time. You just never know when it’s going to go off,” he said.

Radabaugh, a single father of three, has what he calls a “sleeping giant” of a disease, a gene that makes him prone to soaring blood levels of low-density lipoprotein, known as LDL—the so-called bad cholesterol. He’s already had two major surgeries to clear arteries blocking blood flow to his brain and his heart, and he is on the lookout for signs that he will need a third.

“I have to be very cautious. I was riding my bike recently and felt a tightness in my chest. That was what it felt like the first time I had cardiac problems,” he said, remembering the panic of that moment. “It turned out to be nothing more than the beginning of a chest cold, but it’s that type of vigilance I need to have.”

An invisible disease

His condition, known as familial hypercholesterolemia (FH), is a genetic disorder in which individuals are born with high levels of LDL, which builds up in the arteries and can ultimately choke off blood flow to the heart if not treated. It’s highly prevalent in the United States, affecting more than 600,000 adults and children—or one in 500 people. It is far more common than other widely known genetic diseases, such as cystic fibrosis or breast cancer among women.

The disease is treatable, yet it is rarely diagnosed in the United States. According to studies, less than 10 percent of those thought to have the disease have been identified. Cardiologist Joshua Knowles, MD, PhD, an FH expert at Stanford Medicine, says it’s a condition that has been seriously neglected in this country—under-reported, under-treated and under-researched. Sadly, he said, many people don’t learn of their FH status until they have a heart attack.

“It’s an invisible disease,” Knowles said. “If you don’t have your cholesterol checked and get treatment, you’re a ticking time bomb until something happens.”

FH is often the cause of premature heart attacks in young people, including athletes who seemingly out of the blue drop dead on the field. The disease is an underlying cause for some 24,000 heart attacks each year among people under age 60 in the United States, he said. It often affects multiple family members, as children have a 50 percent chance of inheriting it from their parents. In rare instances, children inherit two copies of the gene—one from each parent—making them unusually vulnerable, at risk for heart attack in childhood.

High levels, high risk

Radabaugh said that because of his family history, he long suspected he was prone to high cholesterol. When he was 27, he decided he should be checked out. When his cholesterol results came back, his doctor was alarmed, as his LDL level was high, nearly 300 milligrams per deciliter (mg/dl). The American Heart Association defines LDL levels of below 100 mg/dl as ideal; people with FH commonly have levels of 200 to 400. He was prescribed cholesterol-lowering statin drugs—the mainstay of FH treatment—and advised to watch his intake of fat and to exercise.

One day in 2010, while he was pedaling on the elliptical machine at the gym, he felt a burning sensation in his chest. He stepped off the machine, and the pain subsided. But he was terrified.  The next morning he failed a stress test, and an angiogram (an X-ray of the arteries) showed blockages in four major vessels, including one directly leading to the heart. He was stunned to hear that he needed immediate bypass surgery.

“My surgeon said, ‘You were really lucky. You would have had a heart attack in two to three weeks, and where the blockage was located, it would have been fatal,’” recalled Radabaugh, who was just 43 at the time. He did not realize that he was an FH carrier and had been building up stores of cholesterol since birth.

“If you’re a normal person, you begin worrying about heart disease when you’re in your 60s or 70s,” Knowles said, “but if you’re an FH patient, the heart attacks start happening in your 30s and 40s.”

   

Spreading the word

Given Radabaugh’s family history, his doctor suggested that he have his three children tested as well, though they were just 5, 8 and 12 at the time. Astonishingly, all three children had high LDL numbers and were prescribed statins. For the first time, Radabaugh heard the term familial hypercholesterolemia. “At least I had a name for this monster I was fighting. I felt empowered,” he said. He has since become an advocate, speaking at national cardiology meetings, educating others about the condition and encouraging testing.

“If you have any possibility of high cholesterol or family history, get yourself and your family members checked,” he tells people. “Once you have the knowledge, you can do something. If you don’t, the hand of God may reach down and grab you at any moment.”

Radabaugh, who is being monitored at Stanford, was the first patient to sign up for a national registry of the nonprofit FH Foundation, which aims to identify more carriers of the three known genes that underlie the disease. Knowles, the foundation’s chief medical officer, spearheaded the launch of the online registry, which gathers information about affected individuals and their family members to help improve patient care and develop new therapies.

The registry, which now has data on more than 1,500 patients, offers a rare opportunity in the world of inherited disease, said cardiologist Euan Ashley, MD, PhD.

“Here you have a very straightforward and relatively benign intervention—cholesterol testing and treatment—that can be done very early on and save lives. That is very unusual for any genetic disease. So it’s a great opportunity—if you can find people with the disease,” said Ashley, director of the Center for Inherited Cardiovascular Disease at Stanford Medicine.

The American Academy of Pediatrics also recommends that all children between the ages of 9 and 11 get a cholesterol panel, but the guideline is not widely implemented, Knowles said.

Family effort

“We need to make sure pediatricians are doing a good job of screening children for cholesterol, especially when there is a history of heart disease in the family,” Radabaugh said. “As a parent, it’s emotionally difficult to take your child for a blood draw, but after discovering FH and starting treatment, that’s the miracle. Allowing your child to have a full lifespan is what it’s all about.”

In addition to limiting fat in their diets, he and his children are religious about taking their statins—they call them their “vitamins”—and have collectively lowered their cholesterol from 1,800 to 800, he said. Studies have shown that taking statins and controlling cholesterol are highly effective in reducing mortality among FH patients to levels similar to those in the general population, Knowles said.

Radabaugh also works out daily at the gym and follows a vegan diet to help reduce his risks. He’s enrolled in a clinical trial of a new medication—one of a next generation of cholesterol-lowering drugs—and clings to the promise of new treatments that could greatly benefit him and his children.

“If I could get my LDL below 70, I may have a chance at heart disease reversal, when some of the cholesterol could come out of my arteries. I’m trying everything I can to achieve a lower cholesterol level. I want to be around another 10 years to help my kids reach their adulthood.”

For more information, visit theFHfoundation.org.

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