Familial Hypercholesterolemia Screening in Childhood and Early Adulthood
JAMA 10.1001/jama.2025.20648November 09, 2025 at 5:00 PM EST
Can universal sequential screening for heterozygous familial hypercholesterolemia (FH)—lipid testing followed by genetic testing after a high low-density lipoprotein cholesterol (LDL-C) measurement at age 10 or 18 years—cost-effectively reduce cardiovascular disease?A computer model estimated lifetime outcomes of sequential FH screening and found no strategies cost-effective relative to usual care under base case assumptions. However, screening at age 18 years could be cost-effective if an LDL-C of 130 mg/dL or greater resulted in increased lifetime lipid monitoring and appropriate therapy.Sequential FH screening in childhood and early adulthood is likely not cost-effective without additional lifetime intervention for non-FH dyslipidemias.
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