Abstract
Pediatric lipid screening remains underutilized, despite recommendations from many professional societies. In particular, certain lipid disorders such as familial hypercholesterolemia and elevated lipoprotein (a) are highly heritable and detectable in childhood. This low uptake represents not only a missed opportunity to identify high-risk youth for atherosclerotic cardiovascular disease (ASCVD), but also a lost occasion to identify high-risk adult relatives through reverse cascade screening. Expanding universal pediatric lipid screening to include lipoprotein (a) can serve as an effective strategy to uncover undiagnosed ASCVD in their relatives. Early identification of affected, asymptomatic individuals could prevent ASCVD morbidity and mortality.
“Familial hypercholesterolemia and elevated lipoprotein(a) are distinct lipid disorders that significantly increase an individual’s lifetime risk of ASCVD.”
The 2026 Multi-Society Guideline on the Management of Dyslipidemia begins with a list of its top take-home messages. 1 The very first line reads as follows, “Treat dyslipidemia earlier to reduce lifelong risk of prolonged exposure to atherogenic lipoproteins.” This notion, that “lower is better for longer,” has arguably become the pre-eminent mantra defining the contemporary practice of preventive cardiology. 2 Indeed, the 2026 Multi-Society Guideline lays out specific criteria to consider the initiation of lipid lowering therapy in higher-risk primary prevention adults starting as young as 20 to 30 years old. 1
The logic undergirding “lower is better for longer” applies as readily to children as it does to adults. The 2026 Multi-Society Guideline affirms this point by providing a strong recommendation for universal lipid profile testing for all children ages 9 to 11 years of age. 1 Yet, according to a 2024 study, only 11.4% of children nationwide have undergone recommended pediatric lipid screening. 3 From our perspective as physicians dually trained in both Pediatrics and Internal Medicine, the low uptake of pediatric lipid screening not only represents a missed opportunity to identify youth at higher lifetime risk of atherosclerotic cardiovascular disease (ASCVD) but also represents a substantial loss to the child’s adult family members, individuals who are far more proximate to potential ASCVD events. For some of these adult relatives, pediatric lipid screening may offer the last best chance they have to uncover their higher ASCVD risk before the condition clinically, often catastrophically, manifests itself.
It is estimated that upwards of 80% of ASCVD events are preventable. Subclinical atherosclerosis, a prevalent precursor to clinical ASCVD, often begins in youth, with atherosclerotic disease progression largely a function of cumulative exposure over decades to atherogenic risk factors including dyslipidemia, diabetes mellitus, and hypertension. 4 Despite possessing an array of effective tools to diagnose and treat these common ASCVD risk factors, ASCVD remains the leading cause of morbidity and mortality in the United States. Far too often, atherosclerotic disease is only uncovered in the aftermath of a devastating heart attack or stroke, when the window for primary prevention has already been permanently sealed shut. To compound matters, many adults, whether due to lack of access or lack of perceived necessity, maintain a tenuous connection to the healthcare system, often disappearing into the ether for years at a time between sporadic visits to the urgent care clinic or the emergency department. The challenge of identifying asymptomatic adult patients at higher risk of ASCVD is made even more daunting when one considers just how many of these patients are routinely lost to follow up, thus increasing the likelihood of one day finding these individuals not in a primary care clinic but rather on a gurney or in the morgue. This is where expanded universal pediatric lipid screening can play a critically important role.
Familial hypercholesterolemia and elevated lipoprotein(a) are distinct lipid disorders that significantly increase an individual’s lifetime risk of ASCVD. Both conditions can be diagnosed in childhood with a simple blood test while the patient is entirely asymptomatic. Both conditions are relatively prevalent in the population, with familial hypercholesterolemia affecting approximately 1 in 250 individuals (making it the most common monogenic disorder in humans) and elevated lipoprotein(a) affecting approximately 1 in 5 individuals. Moreover, both conditions are highly heritable such that the identification of a child with either condition should prompt reverse cascade testing to detect similarly affected biological relatives.5,6 While no targeted therapies are currently approved for treating elevated lipoprotein(a), evidence suggests that elevated lipoprotein(a) identified in youth is a risk factor for future ASCVD in adulthood, and thus should prompt more aggressive ASCVD risk mitigation in affected individuals. 7 Consequently, we echo the calls of a growing chorus of experts who recommend “expanded” universal pediatric lipid screening that incorporates both a standard lipid profile as well as a lipoprotein(a) level. 8 This approach would not only enable us to identify children who are at higher lifetime risk of ASCVD, but could potentially position a child to serve as a window into the metabolic health of his or her adult family members, thereby providing actionable prognostic information on adults who themselves may not even directly interface with the medical system.
Furthermore, expanded universal pediatric lipid screening paired with reverse cascade testing could potentially facilitate the identification of affected adult family members at significantly younger ages than an analogous protocol utilizing adult lipid screening and standard cascade testing. 9 This detail is key since early intervention and risk factor modification are essential to slowing, halting, and potentially reversing the atherosclerotic disease process that if left unchecked could ultimately culminate in a life-threatening ASCVD event. Statistically speaking, even among children affected by familial hypercholesterolemia or elevated lipoprotein(a) who remain untreated, most such patients are likely to remain event-free well into their midlife.3,4 For the vast majority of even higher-risk youth, time is very much on their side, with literal decades of runway available to them to take necessary preventive action. In contrast, for similarly affected adult family members, these patients may only have a few years ahead of them, if that, before potentially suffering a first heart attack or stroke. Taken together, expanded universal pediatric lipid screening paired with reverse cascade testing not only has the potential to identify higher-risk adults in the community who would likely have otherwise gone undetected, but critically, also has the potential to identify these adults when they are still relatively young, thus giving these patients more time to proactively manage their ASCVD risk factors and in so doing hopefully avert disaster.
While we contend that universal pediatric lipid screening represents a unique and compelling opportunity to assess and potentially mitigate ASCVD risk at a population level, we freely acknowledge that this topic remains hotly contested. As of its most recent update on childhood lipid screening in 2023, the United States Preventive Services Task Force (USPSTF) maintains that the evidence is insufficient to advocate for or against screening for lipid disorders in children and adolescents. 10 Following the USPSTF recommendation, the National Lipid Association and the American Society for Preventive Cardiology issued a joint critique, calling the statement “unnecessary and potentially harmful,” and accusing the USPSTF of “[requiring] an unreasonable level of evidence.” 11 More recently, a 2026 study found that screening for familial hypercholesterolemia in childhood and early adulthood was likely not cost-effective. Yet the very same study highlighted that among younger patients with dyslipidemia, initiating lifetime lipid lowering therapy has the potential to significantly reduce ASCVD risk. 12 While the debate over pediatric lipid screening is by no means completely settled, we believe that the preponderance of the evidence favors its application in clinical practice.
With that being said, and despite having the support of numerous major medical societies and clinical practice guidelines, advocates of universal pediatric lipid profile testing have evidently failed to persuade most pediatricians and parents of the importance of childhood lipid screening. As frustrating as it may be for those of us who believe that detecting familial hypercholesterolemia in youth represents a pressing public health concern and a more than sufficient justification, in and of itself, for universal pediatric lipid screening, it is clear that many others do not feel likewise. Though purely speculative, it stands to reason that explicitly incorporating testing for elevated lipoprotein(a), a condition that affects 20% rather than 0.4% of the population, into the recommendations for universal pediatric lipid screening could potentially convince some skeptics of its diagnostic yield and clinical utility. Of course, expanded universal pediatric lipid screening would not represent a panacea for America’s chronic disease epidemic. But it would be a serious mistake to ignore its potential as a tool to identify individuals, especially adult family members, at higher lifetime risk of ASCVD, in whom immediate intervention may very well make the difference between life and premature death.
Footnotes
Funding
The authors received no financial support for the research, authorship, and/or publication of this article.
Declaration of Conflicting Interests
The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
