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.

But how would a mom ever know if her child is at risk for cardiovascular disease?

That is the question that has propelled Cook Children’s work on developing a cardiovascular health and risk prevention program to help identify children with genetic and acquired cardiac risk factors. The program is led by Don Wilson, M.D., an endocrinologist and an Endowed Chair of Cardiovascular Health and Risk Prevention at Cook Children’s.

“The best thing we can do is test the child and tell his mother, “No, he doesn’t have any evidence of a genetic cholesterol problem like his dad,’” Dr. Wilson said. “That would be the best scenario and when we have told moms that exact thing, the relief on that woman’s face is unbelievable. That’s what medicine is all about.”

Unfortunately, the answer is sometimes that the child is at risk for future cardiovascular disease. But Dr. Wilson said his team will be prepared in that case as well.

“If the kid does have the risk of a genetic problem with high cholesterol, we can tell that mom, “You have stepped forward and brought your child to us for help. We can actually do things to assure that your child doesn’t have the same outcome as his dad did,” Dr. Wilson said.

The child will require medication and a regiment of healthy eating and exercise.

The misconception in these types of cases is that the family is overweight or hasn’t taken care of themselves, but in a case like the one outlined here, the treatment is more about genetics.

Familial hypercholesterolemia (FH) is a result of genetics where the cholesterol is abnormally high. FH occurs in 1 in 250 individuals, including children.

Cardiovascular disease, heart attacks and strokes is the leading cause of death in adults. The goal of Dr. Wilson and his team is to identify as many children as possible early enough that they can eliminate cardiovascular disease in future generations.

But to reach that goal, pediatricians have to be educated to test children for possible genetic risks of cardiovascular disease. Nationally, the average is 3 percent. Cook Children’s is way ahead of the national average at 18 percent, but Dr. Wilson says there need to be standard, national guidelines to make testing 100 percent.

“When you look at the number of people in this country who have heart attacks and strokes in this country and then realize if we could get pediatricians to embrace and effectively implement these strategies, that would almost be in the same order and magnitude of immunizations.”

It’s probably not an average-sized, active teenager. But that could be the case if the child has a history of hypercholesterolemia.

Familial  hypercholesterolemia (FH) is an inherited disease, caused by a genetic alteration that causes high blood cholesterol. FH is passed on from generation to generation. 

FH is a common diagnosis in the Endocrinology and Diabetes program at Cook Children’s. One in 500 people have a genetic alteration that causes FH. If one parent has FH, there is a 50 percent chance the child will also have it. Women with FH usually are affected by cardiovascular disease 10 years later than men with FH.

What causes FH?

A change in the gene that codes for low-density lipoprotein (LDL), or what’s sometimes called the “bad cholesterol,” is the particle in the blood stream that carries cholesterol from one cell to another.

Cholesterol is a fatty substance that is needed to build cells, to make hormones, and to make bile acids in the liver. Too much LDL in the blood stream is bad for you and can lead to a buildup in the arteries which will eventually lead to cardiovascular disease.

When you can’t remove the LDL cholesterol from your blood, you have FH.

When FH should be suspected?

• If you have a family history of cardiovascular disease early in life, such as a heart attack before the ages of 50 to 60.
• A high level of cholesterol in the blood.
• Swollen tendons on the heels or hands (xanthoma).
• Yellowish areas around the eyes (xanthelasmas).

How do we diagnose a child with FH?

If your child has the family history or symptoms listed above, a blood test will serve as  DNA testing to find the defective gene. If anyone is diagnosed with FH, all close relatives should be diagnosed because early detection is the key.

Treatment

We begin our treatment of FH with lifestyle changes:

• Decrease saturated fats, which raise the LDL cholesterol level.
• Choose unsaturated fats in place of saturated.
• Increase fiber as that helps lower LDL cholesterol by binding to it and excreting it in the gut.
• Increase exercise – a good rule of thumb is 30 to 60 minutes of exercise each day.

Next, we will look at medication. Medication begins as early as 10 to 12 years old. The treatment will continue for the rest of the patient’s life and could include:

• Statins – to increase the number of LDL receptors to take up LDL cholesterol from the blood.
• Cholesterol uptake inhibitors.

​Familial Hypercholesterolemia can be a scary diagnosis for children and their family, but the child should be able to live a normal and productive life  with proper medication and a few lifestyle changes. 

Reference: Familial Hypercholesterolemia: An educational booklet for patients with Familial Hypercholesterolemia By Dr. Leiv Ose

About the author

Lisa R. Guerra, BSN, RN, is a nurse for the Cook Children’s Endocrinology and Diabetes Program.

Fiber is a part of plant foods (ex: whole grains, vegetables, fruit) that our bodies can’t digest.

There are two types: soluble and insoluble. Soluble fiber is most helpful for lowering cholesterol, and insoluble fiber is like a scrub brush that helps to prevent constipation. Most foods deliver a mix of soluble and insoluble fiber.

Most children and adults alike aren’t getting enough fiber in their diet each day. Are you?

Here is a table of recommended intakes:

To increase fiber intake, eat more vegetables, choose fruit instead of fruit juice, and choose whole grains such as brown rice instead of white rice. Be careful to increase fiber slowly, and increase water intake as you do to avoid bloating and gas.  

So, add some fiber to your summertime cookouts!

Grilling vegetables adds a new dimension to their flavor. Slice vegetables with skin still intact, brush with some olive oil, season to taste, and toss on the grill. You can add grilled bell pepper or onion to your sandwiches, or make a side of grilled vegetables to go with your meal. Try this recipe to get started.

If grilling vegetables doesn’t appeal to you, here are a few other options:

• Try a variety of vegetables dipped in salsa, hummus or light ranch dressing.
• Add a fruit salad for a side or dessert.
• Choose whole wheat buns for sandwiches.

* Moshfegh A, Goldman J, Cleveland L. What We Eat in America, NHANES 2001-2002: Usual Nutrient Intake From Foods as Compared to Dietary Reference Intakes. U.S. Department of Agriculture, Agricultural Research Service, 2005.

About the author

Lauren Mullins is a clinical dietitian for the Endocrinology department’s REACH clinic at Cook Children’s.

By now you’ve heard about trans fats so much, you may start to tune out how dangerous they can be for your child. We hear these buzz words all the time and it’s hard to tell any more what is and isn’t a serious threat.

How bad are trans fats for you? Toward the end of last year, the U.S. Food and Drug Administration (FDA) made the decision that hydrogenated oils may no longer be generally recognized as safe. That means if a final determination is made (which should be any time now), food manufacturers could no longer sell food products with trans fats or use them as an ingredient without prior FDA approval.

Here are four things you should know about trans fats to help you the next time you’re out shopping or ordering at a restaurant:

1. What are trans fats?

Trans fats are one of the “bad fats.” Some do occur naturally in foods, but most are created by adding hydrogen molecules to liquid vegetable oils. You’ll see them on food labels as “partially hydrogenated oils” or “hydrogenated oils.”

2. Where are they found?

Companies use trans fats because they’re inexpensive, last longer than other fats (increased shelf life), and give foods a good taste and texture. Trans fats are most often found in processed foods or fast foods.  Examples of trans fats are fried foods, baked goods, shortening and margarines, canned frosting and baking mixes. 

3. Why are they so bad?

Trans fats increase your LDL (“bad”) cholesterol and decrease your HDL (“good”) cholesterol.  They can increase your risk for heart disease and stroke, and there’s an association between trans fat consumption and higher risk for Type 2 diabetes mellitus.

4. What should we do?

• Look for trans fats on nutrition facts labels and look for partially hydrogenated oils in the ingredients list. Try to avoid trans fat (0g and no partially hydrogenated oils).
• Cook and eat at home as much as possible.
• Limit processed foods, especially at snack time. Reach for fruit, almonds or a light string cheese instead of chips or processed snacks.
• If eating out, choose baked or grilled proteins and watch “extras” like breads and sauces that may contain trans fat.

Trans fats are dangerous, but the good news is you can protect your kids from them. Start today by reading nutrition facts labels, ingredient lists, and eating at home as often as possible.