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Enhancing early detection of familial hypercholesterolemia using provider education and EHR-integrated screening
Dissertation   Open access

Enhancing early detection of familial hypercholesterolemia using provider education and EHR-integrated screening

Andrea Damon
University of Iowa
Doctor of Nursing Practice (DNP), University of Iowa
Summer 2026
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Abstract

Background: Familial hypercholesterolemia (FH) is a common genetic disorder associated with premature atherosclerotic cardiovascular disease, yet up to 80% of cases remain undiagnosed. Lack of standardized screening processes contributes to missed opportunities for early identification. Purpose: The purpose of this quality improvement project was to implement and evaluate a standardized FH screening process using a modified Dutch Lipid Clinic Network (DLCN) questionnaire integrated into the electronic health record (EHR), combined with provider education. Methods: This project was conducted in cardiology and primary care clinics within a large Midwestern academic health system. Four nurse practitioners participated. The intervention included provider education, implementation of a patient-facing DLCN-based questionnaire within the EHR, and a structured referral pathway for patients classified as possible, probable, or definite FH. Outcomes included provider knowledge and confidence, screening implementation, genetic referrals, testing outcomes, and provider satisfaction. Data were analyzed using descriptive statistics and nonparametric testing. Findings: Provider knowledge improved from a mean of 9.5 to 10.0, and median confidence increased from 3.0 to 4.0. The questionnaire was assigned to 353 patients, with a completion rate of 78.5%. Referrals for genetic counseling increased from two at baseline to six during implementation. One patient was diagnosed with FH based on identification of a pathogenic PCSK9 variant. Providers reported high satisfaction and supported continued use of the screening tool. Discussion: Implementation of a structured, EHR-integrated screening process combined with provider education improved identification of patients at risk for FH and increased referral activity. Findings support the feasibility and clinical value of standardized screening approaches aligned with current guideline recommendations. This project demonstrates the role of nurse practitioner-led quality improvement initiatives in advancing early detection of inherited cardiovascular conditions.
 Cardiology familial hypercholesterolemia screening genetic testing quality improvement primary care

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