New Study Evaluates Screening for High Cholesterol in Children

Approximately 1 in every 250 individuals in the United States carries a genetic variant that causes dangerously high cholesterol levels from birth. This condition, known as familial hypercholesterolemia (FH), significantly increases the risk of heart attacks and strokes in affected individuals as early as their 30s or 40s. Alarmingly, only about 10% of those with FH, approximately 1.5 million Americans, are aware of their condition. A recent study conducted by researchers at Columbia University and Harvard University examines the potential benefits and costs of screening children and young adults for high cholesterol and FH genes.

The study indicates that while early screening could prevent a significant number of premature heart attacks and strokes, the current costs associated with such testing are prohibitive. The findings were published in the journal JAMA on November 9, 2023. The researchers propose that a universal screening initiative, which includes more intensive monitoring and lifestyle interventions for all children and young adults with high cholesterol—even those without FH—could render cholesterol screening more cost-effective.

Importance of Early Detection

Andrew Moran, an associate professor of medicine at Columbia University Vagelos College of Physicians and Surgeons and a senior author of the study, emphasizes the critical nature of early detection. “Early recognition and management of high cholesterol, even in childhood, can prevent or delay heart attacks, strokes, and possibly even dementia later in life,” he states. The study highlights that one in five adolescents shows some abnormality in their regular lipid screening. The American Academy of Pediatrics and the American Heart Association recommend cholesterol testing for all children between the ages of 9 and 11, yet less than 20% of children receive this essential screening.

The research team developed a model to evaluate various two-stage screening strategies. This approach first measures cholesterol levels (LDL-C) in children and then conducts genetic testing for FH in those with elevated cholesterol levels. The study assessed screening at ages 10 and 18, analyzing how these interventions could prevent heart disease over the long term.

Moran notes, “Though FH is among the most common and severe genetic disorders, it’s still relatively rare. The high upfront costs of screening millions to identify a relatively small number of individuals with FH genes hinder widespread implementation.” The findings revealed that none of the combined cholesterol and genetic screening strategies were deemed cost-effective compared to standard care.

Future Screening Strategies

The model suggested that cholesterol screening would be most beneficial if it resulted in more rigorous management of high cholesterol (LDL ≥130 mg/dL) among all individuals, regardless of genetic testing outcomes. This strategy indicates that screening in young adulthood, around age 18, would be the most cost-effective method.

Looking ahead, the study proposes that FH screening may become more feasible if it is integrated with existing childhood screening programs, including newborn screenings. A related study published in JAMA Cardiology explored the viability of paired cholesterol and genetic screening for FH using blood samples collected during newborn screenings. This approach could enable large-scale screening for FH, potentially improving early detection rates.

Moran and his colleagues are collaborating with researchers from the JAMA Cardiology study to identify the most effective methods for early FH screening. An additional advantage of conducting genetic testing for FH in children is the opportunity for cascade screening, which allows family members to be tested and treated for FH, a factor not currently included in the model.

“We haven’t landed on the best way to screen early for FH yet, but with our modeling, we’re leveraging the best evidence and efficient computer simulation methods to identify promising approaches for real clinical trials,” concludes Moran.

The study highlights the urgent need for innovative screening strategies to address the challenges of FH, aiming to prevent serious cardiovascular events and improve health outcomes for future generations.