One sunny day in Los Angeles, Katherine Wilemon was gardening when she developed crushing chest pain, as well as pain radiating down her left arm. She was 39 and fit. Wilemon—who had known since she was a teenager that she had extremely high cholesterol—was certain she was having a heart attack.
The EMTs didn’t believe her, but she was having a heart attack, caused by a complete artery blockage. The doctors at the hospital told her she had the arteries of a 70 year old. “I had what we consider to be an older person’s disease in the prime of my life,” she says.
[time-brightcove not-tgx=”true”]Up until that point, Wilemon had taken medication to lower her low-density lipoprotein (LDL) cholesterol intermittently, but her doctors didn’t take her high levels as seriously as they should have. Despite having a good diet, exercising regularly, and maintaining a healthy weight, she had “almost unbelievable” LDL levels: 385 mg/dL, when less than 100 is optimal. Still, it took nearly a year after her heart attack to be diagnosed with familial hypercholesterolemia (FH), an inherited genetic condition that causes people to be born with high levels of LDL cholesterol that only get higher over time. Wilemon believes doctors should have figured out she had the disorder far earlier, but as she now knows, many fail to screen for it or even bring it up. “No one said, ‘How could this person who we don’t think fits the general phenotype of someone with heart disease have this extreme level of disease?’” she recalls. “That question wasn’t asked.”
Today, as the founder of the Family Heart Foundation, Wilemon advocates for better, earlier diagnosis of genetic forms of high cholesterol, and has dedicated her career to educating people and connecting them with specialists. “The basis of our work is understanding how poor the appreciation of this condition is within the medical system and the public at large,” she says, “and trying to rectify that.” She also serves as proof that it’s possible to live well with FH: While the road to a diagnosis can be a slog, the disorder itself is very treatable.
Here’s a look at what it means to have a genetic risk for high cholesterol—and what that diagnosis spells for future health.
What’s the big deal about high cholesterol?
Elevated cholesterol—specifically high levels of LDL—is the main driver of plaque build-up in blood vessels, which is called atherosclerosis, says Dr. Keith Ferdinand, a cardiologist and professor of medicine at the Tulane University School of Medicine. High cholesterol can lead to heart disease, heart attacks, strokes, high blood pressure, and peripheral artery disease.
People often have no idea they have high cholesterol, because on a day-to-day basis, it doesn’t cause symptoms. Enter a cardiac event, and that changes—as indicated in the very names of some of the most common events. “The reason we use the term ‘heart attack’ is because it often happens suddenly, like a lion jumping out of the bush,” Ferdinand says. “We use the term ‘stroke’ because it comes suddenly, like a stroke from heaven.”
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For the general population, LDL cholesterol is driven by lifestyle habits. Eating lots of saturated fat and being overweight, for example, raises your LDL level and lowers your “good” cholesterol, or high-density lipoprotein (HDL). “If you look at family history, if the person doesn’t have a clear genetic cause, they can easily modify their LDL by modifying their diet along with other health habits,” Ferdinand says. “That’s good news for the majority of people.”
However, it’s not the case for everyone. Lifestyle changes do little for people with genetic forms of high cholesterol. Medication is necessary.
As heart disease-related deaths trend upwards in the U.S., Ferdinand says we’re overdue for progress. “We need to do more to address lifestyle, and also to identify those people who may have genetic forms of high cholesterol so that we can intervene earlier,” he says.
Who is genetically predisposed to high cholesterol?
About 1 in every 250 people in the U.S. has familial hypercholesterolemia—which is what people are usually referring to when they say high cholesterol runs in their family. It’s caused by a genetic mutation that affects the way cholesterol is cleared by the body, prompting it to build up in and ultimately clog your arteries and veins. “LDL is what we consider the garbage of lipid metabolism,” says Dr. Seth Martin, a professor of medicine and director of the Advanced Lipid Disorders Program at Johns Hopkins University. “It’s something you want to get rid of, and fundamentally, familial hypercholesterolemia is a problem with clearing out that garbage.”
If one parent has FH, there’s a 50% chance they’ll pass it on to their children. In this version of the disorder (called heterozygous FH), kids usually have LDL cholesterol levels greater than 130 mg/dL; adults’ levels typically jump above 190 mg/dL.
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If both parents have FH, however—which is rare—there’s a 50% chance their kid will have this type, and a 25% chance they’ll have a more serious form called homozygous FH. Children with this type of the disorder typically have LDL levels over 400-500 mg/dL, while adults’ levels are greater than 300 mg/dL. It’s not unusual for people with this variation of FH to have heart attacks in their teens or 20s.
Overall, research suggests that men with untreated FH have a 30% risk of experiencing a cardiac event (like heart attack or stroke) by age 50, and untreated women have a 50% risk by age 60.
Another genetic risk factor is lipoprotein(a), which is a type of lipid that’s similar to LDL. High levels affect nearly 1 in 5 Americans, and they increase the likelihood of experiencing heart disease. You can find out what your Lp(a) is through a blood test, but historically, doctors have shied away from bringing it up, because it’s unclear how much treatment helps. Unlike with FH, “the clinical trials to show the benefit of lowering Lp(a) with medication are ongoing,” Martin says. “We’re going to find out in the next couple of years some very important clinical trial information to see if these drugs can lower the risk of cardiovascular events.”
When should cholesterol screening start?
Many people have no idea they have FH. If you find out you have it as an adult, doctors will start treatment right away and check your cholesterol levels every few months until your numbers have stabilized. Eventually, some patients only need to be tested annually.
If you suspect your child might have FH—because one or both parents have it—it’s important to have your doctor start checking their cholesterol early, between ages 2 and 6. “By the time a person is 6, their lipid profile is going to be very similar—not necessarily exactly the same—as they would have later in life,” Ferdinand says. Statin therapy typically starts at age 8, Martin says, but even before that, doctors will want to monitor the situation by running lipid tests regularly.
The same goes for children of families with a history of heart disease. If a family member had a heart attack, needed a stent, or had bypass surgery before age 55 in men, and before 65 in women, consider it a sign that something genetic might be at play and opt for early screening. If FH is not, in fact, present, kids typically don’t need to be tested again until early adulthood. In general, everyone should have their cholesterol checked by the time they’re 21, Ferdinand stresses, whether they’re worried about heart disease or not.
An underdiagnosed disorder
Unfortunately, doctors aren’t all vigilant about screening for FH. That’s part of the reason why many people don’t know they have it, experts say. The worst-case scenario, Martin says, is when it’s discovered during an autopsy, or when someone has a cardiovascular event like a heart attack in, for example, their 20s or 30s. If you have high levels of LDL cholesterol (above 190 mg/dL) that don’t improve with diet and exercise, or a family history of early heart disease and/or heart attacks, push your doctor to consider FH, he urges.
Doctors use different sets of criteria to make a diagnosis, but the steps include taking a family history, reviewing the patient’s medical history, confirming cholesterol levels, sometimes doing genetic testing, and conducting a physical exam. When Martin examines patients with FH, he can often detect signs of the disorder. “I look in their eyes, and I can see this lightish ring called corneal arcus from the cholesterol deposition,” he says. “If that’s seen before the age of 45, it’s very specific for familial hypercholesterolemia.” Martin always checks the Achilles tendon, too, where cholesterol can deposit. “It can be very thick and even sometimes, in more extreme cases, kind of bulging out,” he says, which is another indication of FH.
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Sometimes, a diagnosis happens in surprising ways. About three years ago, Jennifer Johnson, 49, who lives in Naples, Fla., saw a chiropractor for pain in her neck. He decided to do an X-ray, and after looking it over, asked her: “Have you ever seen a cardiologist?” “I was freaking out,” she recalls. It turned out that the chiropractor was able to see plaque in Johnson’s carotid arteries. She was shocked, because she was young, fit, and followed a healthy diet. After making an appointment with a vascular surgeon, she learned her carotid arteries were blocked 50%. A lipid specialist then diagnosed Johnson with FH. She’s been on a statin ever since, and her LDL has dropped significantly. “I never knew that was a thing,” she says of FH. “I knew that heart disease and high cholesterol ran in my family, but when you’re relatively young, you think you’re invincible.”
How to treat FH
When a genetic condition is driving your high cholesterol, you could be doing everything right and still have markedly elevated levels. “The good news is that we have a great set of therapies,” Martin says. “It’s now very treatable.” People with FH, he adds, will likely need more than one type of treatment, like a combination of statins and newer PCSK9 inhibitors. It’s appropriate to start kids with FH on treatment at a young age, Martin adds—generally around age 8, but earlier in more severe cases.
It’s possible to “decrease cholesterol by a significant degree,” says Dr. Sanjay Rajagopalan, director of the Cardiovascular Research Institute at Case Western University’s School of Medicine. Many medications start working within days. “This has been a revolution for these patients—genetic hyperlipidemia can now be managed aggressively.”
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Though lifestyle alone can’t adequately improve cholesterol levels for people with FH, “you don’t try to make an already bad situation even worse,” Rajagopalan says. Patients are generally encouraged to prioritize fruits and vegetables, whole grains, lean protein, and low-fat dairy, while avoiding processed foods, saturated fat, added sugars, salt, and alcohol.
Reasons for optimism
When Martin diagnoses people with FH, he stresses that he expects to get their LDL down to a well-controlled level. In fact, especially when there’s an early diagnosis, FH patients on treatment “are likely to have much better cholesterol than the average American,” he says. (A typical LDL in the U.S. is 110 mg/dL.) At a minimum, his patients’ LDL drops below 100, but depending how aggressive treatment is, that number could plummet to 70 or below.
That resonates with Wilemon, whose LDL cholesterol is now in the mid-20s to low 30s. “I live with less anxiety,” she says, knowing she’s lowered her risk for another heart event. “Historically, people have underestimated the role that genetics play in the onset of cardiovascular disease, especially early cardiovascular disease. It’s so feasible for people to understand their level of risk, and to do something about it today.”
