AHA Scientific Sessions 2026 Abstract · Nov 2, 2026
A Pragmatic Evaluation of Familial Hypercholesterolemia Management: Gaps in Screening, Genetic Testing, and Lipid Optimization
By Ram B, Abou Alaiwi S, Batinica B et al.
Background: Familial hypercholesterolemia (FH) is a common inherited dyslipidemia affecting ~ 0.5% of adults worldwide and increases atherosclerotic cardiovascular disease (ASCVD) risk if untreated. Despite established clinical guidelines, FH remains underdiagnosed, with only 10% of cases captured in routine clinical care. Research Questions: To characterize the management of potential FH in a diverse health system comprised of 5 hospitals and its affiliated community practices, we used structured electronic health record (EHR) data to assess standard care components. Methods: We performed a retrospective cohort analysis of adults (≥ 18 years) receiving care at Yale New Haven Health System (YNHHS) from January 1, 2013 to present. To target patients with potential FH, we included patients who had at least one instance of elevated low-density lipoprotein cholesterol (LDL-C ≥ 160 mg/dL) and displayed one or more of the following risk enhancers: (a) a diagnosis of premature ASCVD (< 55 years old in males and < 65 years in females), (b) a relevant ICD code diagnosis of hypercholesteremia, or (c) a first or second degree family history of premature ASCVD. We then examined the screening and management of these patients concerning testing and levels of LDL-C and lipoprotein(a) (Lp(a)), genetic testing and other types of cardiovascular or metabolic gene panels, and treatment intensity with lipid-lowering therapies. Results: Of 46,584 patients that met criteria for inclusion, 950 (2.4%) had a diagnosis of FH while 4,533 (9.7%) had a diagnosis of familial combined hyperlipidemia (FCHL). The average lifetime peak LDL-C of flagged patients was 184.1 (SD = 27.4) mg/dL with the average most recent LDL-C being 141.7 (SD = 46.4) mg/dL and 38,036 (81.7%) patients having repeated testing. Of flagged patients, 2,239 (4.8%) of patients had Lp(a) testing with a mean Lp(a) of 111.2 (SD = 119.4) mg/dL. A total of 1,199 (53.6%) patients had elevated levels of Lp(a) (≥ 50 mg/dL) with 239 (10.7%) patients having repeated testing. Concerning genetic testing, 2,247 (4.8%) patients had results with 131 (0.3%) patients having multiple genetic tests. Of flagged patients, 30,827 (66.2%) were on lipid lowering therapy, with 14,218 (30.5%) on high intensity statins, 5,131 (11.0%) on combination therapy, and 1,971 (4.2%) on PCSK9 inhibitors. Conclusions: In a large-scale health system, substantial gaps in care exist in the diagnosis and management of FH, including missed opportunities in clinical screening, genetic testing, and medication management for patients with hyperlipidemia. Limitations of structured data in the identification of these patients serve as barriers to care for those with potential FH. This highlights an unmet need for EHR-deployable tools to parse structured and unstructured data to better identify, diagnose, and manage individuals with FH, FCHL, and other inherited dyslipidemias.