It may come as a surprise, but one in 250 kids has a genetic form of high cholesterol. It may come as less of a surprise that many of them go undiagnosed. Catching the condition early is key.
“If you start therapy and medication in children, their risk of heart disease is lowered to that of the general population,” says Heather Zierhut, an expert in genetic counseling who is leading a study designed to provide a roadmap for early intervention. “If caught later heart disease risk is up to 20 times higher than general population.”
While children are supposed to be screened around age 10, in the United States the testing often doesn’t happen as prescribed due to decentralized record-keeping and other factors.
“In the United States, we don’t have a universal way of screening or tracking family members with high cholesterol,” says Zierhut. “There’s a gap in the public health structure as well. Through this study, we are looking to identify family members of children with familial hypercholesterolmenia. We’re trying to reverse engineer the process and help parents get screened and then share information with other family members.”
The goal, says Zierhut, is to educate families about the condition and help them communicate to other at-risk family members.