Discover what parents should watch for, and how to detect and treat familial hypercholesterolemia (FH).
A common genetic disorder can cause children to have high cholesterol, even if they are otherwise healthy. If left untreated, the disorder could lead to early cardiovascular (heart) disease, heart attack, stroke and other issues.
Approximately one in 200 to one in 500 children have familial hypercholesterolemia (FH), and about 90 percent of people who have it remain undiagnosed, says Jennifer Kelley, M.D., a pediatric endocrinologist in the Pediatric Lipid Clinic at Monroe Carell Jr. Children’s Hospital at Vanderbilt.
What is FH?
Familial hypercholesterolemia is a genetic disorder that some people are born with. “The liver can’t clear out the bad cholesterol, specifically the low-density lipoprotein cholesterol or LDL,” Kelley said. “LDL is the cholesterol that tends to stick in the arteries that bring blood to the heart and then the main arteries of the body, and it can develop into what’s called plaques.”
What are the risks of FH?
If left untreated, Kelley says, familial hypercholesterolemia can increase a person’s risk of a life-threatening cardiovascular event or condition at a young age. Men with untreated FH have a 50 percent increased risk of having a heart attack by age 50. And women have an increased risk of having a heart attack by age 60. “But certainly we can see a range,” Kelley said. “We can see families who have even significant heart disease starting in their 20s and upward.”
When should children be screened?
The American Academy of Pediatrics recommends all children have cholesterol screening done by age 9 to 11 years. However, if your family has a history of high cholesterol or heart disease, you should talk to your pediatrician about what age screening is right for your child, Kelley said.
How are children diagnosed?
A normal LDL level for an otherwise healthy child is less than 110 mg/dL. Borderline is 110 to 129mg/dL. The range that raises a red flag for FH is 190 to 400mg/dL, or higher in some severe forms, Kelley said. If a test comes back with a high LDL level, a pediatrician will typically order a fasting LDL test to see if there is a change. “And then, ideally, if the child has a high level, then parents and siblings should be screened,” she said.
The next step is to run tests for issues with the liver or kidneys, an underactive thyroid or undiagnosed diabetes. “We screen those things to rule out that it’s another problem causing the high cholesterol,” Kelley says. “Then we make a clinical diagnosis.”
How is FH treated?
If your child is diagnosed with FH, you may want to see a pediatric lipid specialist. A care provider may make dietary and lifestyle change to help combat the high LDL level.
Our livers make all the cholesterol we need, according to The Nemours Foundation. We also get cholesterol from some of the foods we eat, and certain foods can increase the liver’s production of cholesterol. That’s why diet and nutrition are important.
Dietary changes may include reducing the amount of saturated and trans fats and adding in more veggies and whole grains. Your doctor may also recommend increasing physical activity, which can help combat a high LDL level.
“Even if you are an extremely healthy person and even if you follow these guidelines, you may only see up to about a 20 percent reduction in your LDL cholesterol levels,” Kelley said. “So they still may stay very high, but it does help.”
Your physician may discuss adding a cholesterol medication. “In adults, statin treatment has been shown to actually prolong life and reduce the risk of cardiovascular disease,” Kelley said. An article published in Current Cardiology Reports describes statin treatment as safe for children as young as 8 years. Medication is a lifelong treatment option since there is no cure for this genetic disorder.
Kelley cautions that women who are of childbearing age and planning to get pregnant should communicate with their doctors about the appropriate time to stop the statin and when to go back on it.
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The Pediatric Endocrinology Program at Monroe Carell Jr. Children’s Hospital at Vanderbilt has been ranked as one of the best in the nation by U.S. News and World Report. For more information or to make an appointment, call 615-322-7427 or click here.