Vivacious Kennedi Thompson wasn’t even 2 years old when her parents noticed strange blisters on her ankles.
“We thought they were from her sneakers,” said dad Sean Thompson, of Albrightsville, PA. “So we just kind of held off on doing anything but they didn’t go away. They started moving up her body, showing up on the back of her knees, out to her elbows and even spreading between her fingers.”
Their baffled pediatrician sent them to a dermatologist, who looked at the active toddler and remarked, “those look like xanthomas (yellow, fatty cholesterol deposits), but she’s way too young to have them,” the doctor said. “Let’s biopsy them just to see what’s going on and we’ll take it from there,” he remembers being advised.
A few days letter, the Thompsons received a follow-up call: Kennedi’s skin lesions were indeed xanthomas. She would need blood tests to confirm what was suspected, familial hypercholesterolemia (FH), a genetic condition that leads to dangerous high cholesterol because your body doesn’t remove it well from your system. They were literally seeing cholesterol deposits in Kennedi’s tissues and tendons.
A few days after the blood test, “we got a phone call saying that our daughter is very sick. Her cholesterol numbers were through the roof: her total cholesterol was 751,” said Sean.
Thus began a 2-week whirlwind during which time Kennedi’s cholesterol would test beyond 800 before she began treatment. In fact, both Kennedi and her 8-year-old brother Austin had inherited a genetic form of high cholesterol from their parents.
That diagnosis would lead them to specialist Dr. Sam Gidding, a pediatric cardiologist at the Nemour’s Cardiac Center at the A.I. Dupont Hospital for Children in Wilmington, DE.
“That put Kennedi at 1 in a million, among people who have inherited not 1 but 2 genes for familial hypercholesterolemia,” Sean said. Austin,who was 8, inherited only 1 gene and is among the average risk population for the disorder: 1 in 500.
“It’s scary to hear a doctor say ‘your daughter is very sick,’ and have her cholesterol through the roof,” Sean said about the day he received Kennedi’s diagnosis.
“When you think of cholesterol you think of deposits and heart disease, and you think of the stereotype—the older person who doesn’t eat right or exercise. But here’s a little kid who is as active as can be.”
“Most parents have heard of high cholesterol but they’ve never heard of the genetic form—and they can’t even begin to fathom what it means for their child,” said Dr. Gidding, in discussing his aim work to get more kids screened for FH.
“To look at her you would have no idea that she has anything wrong with her. We were lucky with having those xanthomas show up. That was the only sign that something was wrong, and that led to her getting screened,” Sean said, encouraging other parents to have their child’s cholesterol checked.
FH causes high cholesterol, particularly high levels of low-density lipoprotein—what we call the “bad LDL” cholesterol. Having FH can lead to early heart attack and death in otherwise healthy kids and adults.
If a child inherits FH from one parent, her LDL could range from 350 to 550mg/dL, Dr. Gidding explains. In the more rare cases, such as Kennedi’s, inheriting FH from both parents usually creates LDL levels of 650 to 1,000mg/dL.
“What’s changed recently is that all children should have their cholesterol checked by age 11 if they’ve never had it checked before,” Dr. Gidding said.
“Around this age is when we would typically start someone on the medications and treatments that would protect their cardiovascular system for life if they test positive for FH.”
Treatment is similar in children as in adults—statins and healthy lifestyle choices can delay a heart attack that could come as early as her 20s for a person like Kennedi with the riskiest form of FH.
Kennedi is on medication and the xanthomas have gotten smaller and fewer. With more than 2 decades of research regarding statin use, Dr. Gidding said Kennedi can safely take them for the rest of her life, particularly when comparing her risks of medication use to the narrowing and hardening of her arteries that would otherwise occur with FH, and that could lead to a heart attack.
Looking back, Sean said the warning signs were there in his family history if he had only known to pay more attention to them.
“My father had a heart attack before he was 50, and he had a second one shortly after. That really brought it out into the light for me. I was only 6 or 7 when both of my grandparents passed away from big heart attacks. So you put these things together and we can see this is why this is happening with Kennedi and Austin,” said Sean.
Do the Thompsons worry about having their daughter on medications for her lifetime? “It’s always scary to deal with such a risky problem, and it means we’ll be teaching her to manage it as she gets older,” says Sean.
Current screening guidelines from the National Lipid Association (NLA) and the National Heart, Lung & Blood Institute call for screening infants as early as age 2 when there is a family history of cardiac events, such as a heart attack before age 50, unless signs manifest earlier.
All children should have their cholesterol checked by ages 9-11. The Thompsons found the information they needed to help learn about and manage Kennedi’s diagnosis at NLA’s LearnYourLipids.com.