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A Scoping Review of Electronic Health Records-Based Screening Algorithms for Familial Hypercholesterolemia
Jeffery Osei1,2, Alexander C Razavi3,4, Baffour Otchere1
1Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA.
JACC. Advances
|January 16, 2025
Summary
Electronic health record (EHR)-based screening tools show promise for detecting Familial Hypercholesterolemia (FH), a genetic disorder linked to early heart disease. While some tools like FIND FH and Mayo SEARCH perform well, broader application is limited by inconsistent criteria and data across diverse populations.
Area of Science:
- Cardiology
- Genetics
- Health Informatics
Background:
- Familial Hypercholesterolemia (FH) is a prevalent genetic disorder significantly increasing the risk of premature cardiovascular disease.
- Despite its impact, FH remains underdiagnosed, highlighting a critical gap in population health management.
- Electronic Health Record (EHR)-based screening tools offer a potential solution to improve FH detection rates.
Purpose of the Study:
- To conduct a scoping review of existing literature on the performance and utility of EHR-based screening algorithms for FH.
- To identify and evaluate the effectiveness of various EHR-based tools designed for FH screening.
Main Methods:
- A comprehensive literature search was performed across PubMed, CINAHL, and Embase databases.
- The search included studies from inception up to October 2023, focusing on EHR-based FH screening algorithms.
- Included studies were analyzed for performance, utility, and implementation characteristics.
Main Results:
- The review identified 14 distinct screening algorithms and/or tools across 27 studies.
- Familial Hypercholesterolemia Case Ascertainment Tool (FH-CAT), FIND FH, Mayo SEARCH, and TARB-Ex exhibited the highest performance metrics for FH identification.
- These tools demonstrated superior ability in detecting patients with FH.
Conclusions:
- EHR-based screening tools possess significant potential for enhancing population-level detection of FH.
- Limitations include the absence of standardized diagnostic criteria applicable to diverse populations.
- Further research is needed on the performance, utility, and implementation of these tools across varied demographic groups to facilitate wider adoption.
