They're active, eat healthy … and they have high cholesterol?

By Caroline Weber

When your child looks and acts healthy, it’s hard to understand how they could have a condition that, without proper treatment, could cause them to have a heart attack or stroke before the age of 50. Maria Gutierrez found herself in this situation when she received a life-changing phone call from Don Wilson, M.D., an endocrinologist and medical director of the REACH Clinic at Cook Children’s to discuss her daughter Kate.

When Kate was 4 years old, doctors told Maria that Kate was overweight and might be developing thyroid issues. Maria encouraged Kate to be more active and eat healthier. Her daughter’s change of lifestyle seemed to be the answer and by age 7 Kate was no longer overweight.

“Kate is always very hyper, very active. She eats vegetables! She loves cucumbers, lemons, loves fruits, loves everything,” Maria said. “Why would doctors call now to suggest blood tests when she’s healthy?”

According to the REACH (Risk Evaluation to Achieve Cardiovascular Health) Clinic, ideal total cholesterol levels should be less than 170 mg/dL, or LDL cholesterol levels (sometimes called “bad cholesterol”) less than 130 mg/dL. Kate’s lab work showed her cholesterol levels at 250 mg/dL, and she was diagnosed with hypercholesterolemia.

Hypercholesterolemia is a condition characterized by high levels of cholesterol in the blood. The condition is frequently caused by a genetic condition and kids can be at risk even when they are living a healthy, active lifestyle. The good news is that with early detection made possible by a routine blood test and medication to lower the cholesterol to safe levels, children with high levels of cholesterol can avoid serious health issues such as a heart attack or stroke when they become adults. But for children with genetic causes of high cholesterol, a healthy lifestyle is not enough.

Maria realized that Kate’s levels matched that of her husband’s, Roberto Macedo, who is diabetic. Dr. Wilson decided to test Kate to see if she had a genetic condition that would cause her cholesterol to be high. When she tested positive, Maria brought in her older son Brandon, 10, too. Brandon also tested positive for the gene. Brandon’s Vitamin K levels were also extremely high, putting him at risk of blood clots.

Both Kate and Brandon take medicine daily to treat their high cholesterol. Their schedules for lab work vary depending on how well they respond to their medication. It’s been two years since their diagnoses.

Right now, Brandon is coming in monthly to monitor his Vitamin K levels. If his medicines do not improve his condition, his dosages will have to be changed. Fortunately, with medication both children have achieved a healthy level of blood cholesterol. Like virtually all children treated with cholesterol medication, Dr. Wilson notes that none of the children have experienced side effects, and all have shown normal growth and development.

Everyday decisions, like what’s for dinner, are potential health risks for Brandon and Kate. They’re kids, so of course they want treats every once in a while. Maria says for her family “if they want a burger, they have to eat really healthy during the week and they can have just one hamburger at the end of the week, but with lettuce and tomato. It’s all about the balance.”

What’s hardest for Maria is knowing that there currently isn’t any cure for her children’s conditions. “I feel really bad because there is no way I can help them. The only way I can help is with what they eat, get plenty of exercise and make sure they take their medicine every day,” said Maria.

What’s even more difficult for her is the fact that not everyone believes Maria when she explains her kids have high cholesterol. She hears this a lot, “They aren’t fat, how can they have high cholesterol?” Maria explains that it’s genetic, and there isn’t much they can do other than to make sure her kids take their medicine, eat healthy and stay active.

But Maria’s children aren't alone. Genetic causes of high cholesterol affects 1 out of every 250 children, and it is one of the most frequent health concerns that affect children. For kids with genetic causes of high cholesterol, early treatment with cholesterol lowering medication is readily available, inexpensive, and most importantly, has proven to be safe and effective.

“It’s hard to understand that little kids can have this issue. They look fine, but they could become diabetic if their levels don’t go down. Or be at risk of having a heart attack or stroke when they’re adults” Maria said.

According to Dr. Wilson, left untreated, 50 percent of men and 30 percent of women with this condition will experience a heart attack by age 50.

Hypercholesterolemia is a challenge that Kate and Brandon face every day, yet an outsider could easily never notice. Maria hopes to bring awareness to her children’s conditions; she wants others whose children appear healthy but face health issues to know that they aren’t alone.

View this video  to learn about high cholesterol.