Universal Lipid Screening in Children and Adolescents: Pros and Cons

A previously healthy 11-year-old girl with a body mass index (BMI) in the 20th percentile for age presents with her parents for a well-child examination. She eats a balanced diet and plays soccer five times per week. She has no family history of high cholesterol or heart disease before age 65 years. You follow the National Heart, Lung, and Blood Institute (NHLBI) guidelines, endorsed by the American Academy of Pediatrics (AAP), and obtain a lipid panel. Her low-density lipoprotein cholesterol (LDL-C) level is 105 mg/dL (2.72 mmol/L).

An 11-year-old girl with a BMI in the 99th percentile for age presents with her parents for a well-child examination. She consumes a diet high in ultra-processed foods. She has 4 hours of screen time daily and does not engage in regular physical activity outside of physical education class. She has no family history of high cholesterol or heart disease before age 65 years. You follow the NHLBI/AAP guidelines and obtain a lipid panel. Her LDL-C level is 135 mg/dL (3.5 mmol/L).

In 2012, an expert panel from the NHLBI recommended universal lipid screening once between ages 9 and 11 years and again between ages 17 and 21 years.¹ These recommendations were endorsed by the AAP and included in the Bright Futures periodicity schedule for well-child care.² In contrast, the US Preventive Services Task Force (USPSTF) concluded that the evidence is insufficient to assess the balance of benefits and harms for lipid screening in children and adolescents.^3,4 National data show that between 11% and 37% of youth undergo at least one lipid screening.^5–7

The primary rationale for the NHLBI recommendation is to detect cases of familial hypercholesterolemia (FH), a rare but serious condition that affects approximately 0.3% of the general population.⁸ FH is a genetic condition that is associated with early cardiovascular disease. The average age of first myocardial infarction in individuals with untreated heterozygous FH is 50 years in men and 60 years in women (compared with 66 and 72 years in the general population, respectively). Individuals with homozygous FH, which occurs in 0.0003% of the population, have cardiovascular events at even earlier average ages.^8,9 There are no universally agreed on criteria for the diagnosis of FH, but an LDL-C level of 190 mg/dL (4.92 mmol/L) or higher in adults or 160 mg/dL (4.14 mmol/L) or higher in children is suggestive of the disease.¹⁰

Scoring systems also include a family history of premature cardiovascular disease and physical criteria such as tendinous xanthomas or corneal arcus.¹¹ Genetic testing is frequently used to confirm the diagnosis. Carotid intima-media thickness has been used as a surrogate outcome in some cardiovascular disease prevention trials in FH. Individuals with FH who are treated with statins have slowed carotid artery thickness progression similar to unaffected siblings.¹² Treated offspring also have fewer cardiovascular events compared with their untreated parents, although this difference may be attributable to general improvements in health care over time.¹² Nonetheless, early diagnosis and treatment of FH are likely to improve clinical outcomes.