By Erinn Connor
Medically Reviewed by Robert Jasmer, MD

For original article visit: https://www.everydayhealth.com/high-cholesterol/living-with/my-life-with-familial-hypercholesterolemia/

One patient with familial hypercholesterolemia took action after too many in her family died of heart attacks in their thirties.

Heart disease and high cholesterol run deep in Mackenzie Ames’s family. When her grandfather Lyle was only 30, he had a fatal heart attack while dancing with his wife at the Elks Club. He’d already seen three of his brothers die from heart attacks in their thirties; it was something the family members knew could strike them at any moment.

“Then, there was no explanation other than bad genes,” says Ames, now 29. Everyone in her family lived in fear of when, not if, their heart attack would strike, she says.

Ames’s mother grew up avoiding dairy foods like milk and butter, and any other foods high in cholesterol that she thought might contribute to her heart attack risk. Still, she needed open-heart surgery by age 42. Even then, the family didn’t know what was causing so many premature deaths or understand their “bad genes.”

Her First High Cholesterol Screen at Age 9

Because of her family history, Ames’s mother made sure her child was screened for heart disease risk factors at an early age. The first blood test was at age nine, when they found that her total cholesterol level was 420 milligrams per deciliter (mg/dL). Healthy cholesterol levels are 200 mg/dL or less, so Ames’s result was surprisingly high.

“They [doctors] assumed we must have had Happy Meals for dinner every night,” says Ames. “Even if that were the case, there’s no way a nine year old has lived long enough to have cholesterol levels in the 400s,” she says.

Statins, a drug class now commonly used to lower cholesterol, were relatively new when Ames was growing up in the 1990s, and doctors were hesitant to prescribe a statin drug to a still-growing child.

As she grew up, doctors continued to lecture Ames about her diet, making her self-conscious about her body and what she ate. And the ghost of her family’s heart disease history still haunted her.

High Cholesterol: A Cause of Early Heart Attacks

As Ames would later find out, it’s likely that most of her family who had heart attacks at early ages had inherited familial hypercholesterolemia (FH). This genetic disease causes high cholesterol levels in the blood, and in particular very high levels of low-density lipoprotein (LDL) cholesterol, the “bad cholesterol” that’s linked to heart disease.

The most notable outward symptoms of FH that patients may have are fatty deposits under the skin’s surface, called xanthomas, which Ames has. These appear as yellow or orange patches or nodules filled with cholesterol-rich lipids, notes the National Library of Medicine.

“I’ve seen patients go to a dermatologist for these, then get a biopsy and get referred to me for familial hypercholesterolemia,” says Seth Shay Martin, MD, associate director of the Lipid Clinic and assistant professor of medicine at Johns Hopkins Medicine in Baltimore. He recommends that all first-degree relatives be tested for familial hypercholesterolemia once someone is diagnosed. This way, he says, a younger person could be placed on medication and a lifestyle plan that hopefully will prevent heart disease and heart attacks.

Familial Hypercholesterolemia Diagnosis at Age 22

When she was 22, Ames got her first job working on a cruise ship. She needed to pass a physical to secure the job, and wasn’t looking forward to it because of her past experience with doctors. But this time was different. Once the doctor took a look at her chart and family history, he knew the diagnosis right away: It was familial hypercholesterolemia.

“I had definitely never heard of it … I figured it just must be a fancy way of saying ‘high cholesterol runs in the family,’” she says about her FH diagnosis. “I thought it was nice to have a name for it, at least … but I was so focused on my new job I didn’t think about my cholesterol for a while.”

The closer she got to 30, the age when her grandfather died of a heart attack, the more Ames realized she needed to take her FH condition more seriously. To learn about inherited high cholesterol, she searched Google and also tried to wade through dense medical journals.

It wasn’t until she found the Family Heart Foundation, a nonprofit organization that helps to educate and advocate for people with familial hypercholesterolemia, that Ames truly understood the disease she — and likely most of her family — had been living with.

Cholesterol Medications That Help Prevent Heart Attacks

Ames now takes several different kinds of cholesterol medication. Statins help lower her cholesterol, and a bile acid sequestrant blocks bile in her stomach from being absorbed into her bloodstream. (Your liver needs cholesterol to make more bile acid, so taking a bile acid sequestrant lowers cholesterol levels.) She also takes niacin, a B vitamin prescribed to help boost HDL cholesterol. Higher levels of HDL cholesterol — also known as “good” cholesterol — may help protect heart health.

“Some treatments I’ve tried have been effective, some haven’t,” Ames says. “It’s a lot of trial and error. I continue to have conversations with my healthcare providers to figure out what’s going to work best for me — to keep me from ever having to go under the knife.”

Other types of medication to treat very high cholesterol include new injectable cholesterol-lowering drugs called PCSK9 inhibitors. PCSK9 is a protein that normally regulates the liver’s ability to remove LDL cholesterol from the blood. The new medication stops PCSK9 from doing its job of regulating, which allows more liver receptors to get rid of excess cholesterol.

Diet Matters for Inherited Cholesterol

Diet matters too, when you have familial hypercholesterolemia. Linda Cashin Hemphill, MD, director of the LDL Apheresis Program at Massachusetts General Hospital Heart Center in Boston, stresses that a diet to lower cholesterol is one of substitution, not of deprivation.

“You can have nonfat milk instead of whole milk, lean meats instead of high-fat meats, frozen (nonfat) yogurt instead of ice cream,” Dr. Hemphill explains.

A Patient Advocate for Families With FH

Ames now works closely with the Family Heart Foundation, where she’s a patient advocate. She acts as a helpful resource for people who are newly diagnosed with familial hypercholesterolemia. She wants them to understand that the disease isn’t their fault, and they’re not alone in dealing with it.
“I want people to know that from the get-go,” says Ames. “I wasn’t told that as a kid, and it severely affected my relationship with food and my body image. Cholesterol and heart disease have this awful stigma in our society, that it’s a problem you bring on yourself for being lazy and unhealthy,” she says. “I eat a balanced diet and go to the gym.”

“FH is a family disorder, so talk to your family members. They know better than anyone the frustrations we all face. Find a support group of others with familial hypercholesterolemia,” Ames recommends. “There are families out there just like yours, and they’re all fighting the same fight.”