Abstract Body (Do not enter title and authors here):
Background
Familial Hypercholesterolemia (FH) is a genetic predisposition to high LDL-C levels and premature atherosclerotic cardiovascular disease (ASCVD) that remains underdiagnosed and undertreated. We developed a patient registry within the EPIC (Epic Systems Corp., Verona, WI) electronic health record (EHR) system to identify patients who have severe hypercholesterolemia or FH. We illustrate how our platform reveals gaps in treatment and outcomes for these patients across a large academic medical center.

Methods
We extracted health information for all living, adult patients from UT Southwestern Medical Center who have ever had an LDL-C >= 190 mg/dL or an FH diagnosis (ICD-10 E78.01) from our FH patient registry. Patients with only laboratory data and no other meaningful encounter or treatment data were omitted from the cohort. We characterized LDL-C levels across the patient cohort and determined the proportion who had seen cardiology or endocrinology, had an FH diagnosis, and received LDL-C lowering therapy. We further analyzed how many patients achieved LDL-C levels at goal (defined as LDL-C < 70 mg/dL for patients with ASCVD or LDL-C < 100 mg/dL for all others in the cohort). Data were extracted from EPIC’s Clarity reporting database.

Results
Of the 7026 patients included in our study, the median age was 62 years, 64.5% were female, 56.7% were white, 16.3% had an unknown/declined race, 9.7% were Hispanic, and 14.2% had an unknown/declined ethnicity. The highest LDL-C among the cohort averaged 216.4 (±43) mg/dL. The most recent LDL-C values recorded averaged 158.5 (± 63.7) mg/dL. We found 6.7% of the cohort had an FH diagnosis, 38.1% were seen by cardiology or endocrinology, and 66.6% were prescribed an LDL-C lowering therapy (63.1% any statin, 53% high intensity statin, and 11.8% a non-statin therapy). Additionally, only 19.1% of those receiving treatment achieved LDL-C levels at goal.

Conclusion
We showcased how an EHR-integrated patient registry can provide rapid insights into the status of FH and severe hypercholesterolemia care at an institution while also elucidating opportunities for targeted intervention. Since EPIC is the most prevalent EHR system in the United States, our methodology can be readily adopted to improve care of patients with severe hypercholesterolemia and FH on a national scale.