Hidden Burden of Electronic Health Record‐Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care

Background Familial hypercholesterolemia (FH), is a historically underdiagnosed, undertreated, high‐risk condition that is associated with a high burden of cardiovascular morbidity and mortality. In this study, we use a population‐based approach using electronic health record (EHR)‐based algorithms to identify FH. We report the major adverse cardiovascular events, mortality, and cost of medical care associated with this diagnosis. Methods and Results In our 1.18 million EHR‐eligible cohort, International Classification of Diseases, Ninth Revision (ICD‐9) code‐defined hyperlipidemia was categorized into FH and non‐FH groups using an EHR algorithm designed using the modified Dutch Lipid Clinic Network criteria. Major adverse cardiovascular events, mortality, and cost of medical care were analyzed. A priori associated variables/confounders were used for multivariate analyses using binary logistic regression and linear regression with propensity score–based weighted methods as appropriate. EHR FH was identified in 32 613 individuals, which was 2.7% of the 1.18 million EHR cohort and 13.7% of 237 903 patients with hyperlipidemia. FH had higher rates of myocardial infarction (14.77% versus 8.33%; P<0.0001), heart failure (11.82% versus 10.50%; P<0.0001), and, after adjusting for traditional risk factors, significantly correlated to a composite major adverse cardiovascular events variable (odds ratio, 4.02; 95% CI, 3.88–4.16; P<0.0001), mortality (odds ratio, 1.20; CI, 1.15–1.26; P<0.0001), and higher total revenue per‐year (incidence rate ratio, 1.30; 95% CI, 1.28–1.33; P<0.0001). Conclusions EHR‐based algorithms discovered a disproportionately high prevalence of FH in our medical cohort, which was associated with worse outcomes and higher costs of medical care. This data‐driven approach allows for a more precise method to identify traditionally high‐risk groups within large populations allowing for targeted prevention and therapeutic strategies.