Abstract 15395: Estimating Coronary Heart Disease Morbidity and Mortality From Heterozygous Familial Hypercholesterolemia in the United States

Abstract

Introduction: With an estimated prevalence of 1 in 299 in the United States based on clinical criteria in NHANES (Circulation.2014;130:A19656), heterozygous Familial Hypercholesterolemia (FH) is widely suspected to be underdiagnosed and undertreated in the U.S. despite increased risk for premature coronary heart disease (CHD). The population burden of FH if undiagnosed and untreated in the US population is unknown. Methods: Using an FH prevalence of 1 in 250 (0.4%) to account for genotypic FH (in addition to our prior 1 in 299 estimate) and U.S. population census data and assuming 90% undetected and untreated, we developed, calibrated and validated a Markov model of the natural history of FH in the U.S. population, including fatal and nonfatal CHD. A sensitivity analysis considers alternative prevalence and detection rates. Results: For the base case 0.4% FH prevalence with 90% of individuals undiagnosed, the model projected that undetected FH led to over 44,000 CHD deaths and over 132,000 years of lost life for a ten-year period. The model also predicted that 37% (range 23-62%) would develop premature (age < 60 years) CHD and 59% (range 43-77%) would develop fatal or nonfatal CHD. Missed FH diagnosis account for 2.4% of premature CHD deaths and 0.6% of all CHD deaths in the U.S. The figure provides estimates of the proportion of premature CHD mortality attributable to undetected FH for varying estimates of prevalence and detection prior to CHD event. Conclusions: Undetected FH, a disease that can be safely and effectively treated, significantly contributes to overall CHD mortality in the U.S., particularly premature CHD. Strategies to attain AHA 2020 prevention goals would be enhanced by incorporating efforts to determine and implement optimal national population strategies to detect and treat FH.