Abstract 19656: What is the Prevalence of Familial Hypercholesterolemia in the US?

Abstract

Background: The prevalence of Familial Hypercholesterolemia (FH) ranges from 1 in 500, as commonly cited, to 1 in 200 in a population-based Danish study. The prevalence of FH in the US, particularly in those of non-European background, remains unknown. Methods: To estimate the US prevalence of FH in National Health and Nutrition Examination Survey (NHANES) 2001-2012 datasets (n = 59,423), we used the Dutch Lipid Clinic (DLC) criteria (Benn et al 2012), which classifies individuals as definite or probable FH based on personal history of premature coronary artery disease (CAD), family history in a first-degree relative of known premature CAD or vascular disease, LDL level, and genetic criteria. Genetic testing is not available in NHANES and therefore was not included. For persons reporting statin use, we multiplied by 1.43 to estimate untreated LDL levels. Results: The overall US prevalence of probable/definite FH in NHANES was 0.33% (95% CI 0.19-0.48) or 1 in 299 (1 in 210-519). The prevalence of FH was similar in males and females (0.34%; 1 in 293 vs. 0.33%; 1 in 305) and in blacks and whites (0.35%; 1 in 283 vs. 0.37%; 1 in 270), but lower in Mexican Americans (0.16%; 1 in 620) and other races (0.08%, 1 in 1235) and higher in other Hispanics (0.40%; 1 in 252). FH prevalence was lowest in 30-39 year olds (0.15%, Figure ), and highest in 50-59 year olds (0.60%), and higher with obesity (0.49%; 1 in 204) than non-obesity (0.26%; 1 in 387), likely reflecting the impact of increasing age and weight on LDL when using DLC criteria. Summary: Our analysis of NHANES data suggests a US prevalence of FH of 1 in 299, which is higher than the commonly cited estimate of 1 in 500 and is likely an underestimate due to the absence of genetic testing in NHANES. Higher prevalence with obesity and in middle-age highlights the influence of increasing age- and weight-related effects on LDL in FH prevalence estimates. Consideration should be given to incorporating genetic testing into future studies of US FH prevalence.