Wisconsin Alumni Research Foundation

Detecting High Cholesterol in Kids to Prevent Future Cardiac Disease – 2022 WARF Innovation Award Nominee

Meet the clinicians developing a genetic test for infants that can lower their risk of cardiovascular disease.

Approximately 1 in 200-300 people will develop familial hypercholesterolemia (FH), a common genetic disorder characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C) and premature cardiovascular disease. Recent findings show that lowering cholesterol levels at a young age helps prevent the buildup of fats and cholesterol in the arteries and decreases cardiovascular events in adulthood. This demonstrates a need to begin universally testing LDL-C levels in 9- to 11-year-olds and treating those with elevated levels before issues develop. Current testing methods are inconvenient, requiring a blood draw at a clinic.

UW-Madison researchers Mei Baker and Brian Conti have developed a pediatric familial hypercholesterolemia screening method that uses dried blood samples (DBS) to directly measure low-density lipoprotein cholesterol (LDL-C). DBS make an ideal specimen type for young patients because they can easily be collected at home by a simple finger prick and then shipped to a lab for testing. Levels of LDL-C are measured using mass spectrometry technology. Data obtained from DBS align with that of the traditional blood draw method. This novel method may also be a preferable monitoring tool for FH treatment.

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