Addressing the Underdiagnosis of Familial Hypercholesterolemia: A Mixed Methods Study Exploring the Knowledge and Practice Behaviors of Cardiology Healthcare Providers

Background: Familial Hypercholesterolemia (FH) is a common genetic disorder that is vastly underdiagnosed and undertreated. FH causes lifelong elevated low-density lipoprotein cholesterol, resulting in an increased risk for coronary heart disease, myocardial infarctions, and sudden cardiac death. Cardiology healthcare providers (CHCPs) are in an ideal position to not only screen cardiology patients for FH but also to diagnose and manage FH patients. Objectives: Describe the practice behaviors of CHCPs in the screening, diagnosis, and management of FH, as well as gain a deeper understanding of the perspectives of CHCPs regarding FH screening and diagnostic interventions that can be implemented in cardiology clinical practice. Methods: An explanatory mixed methods design included a quantitative survey and qualitative interviews. An adaptation of an existing FH knowledge tool guided survey development. The results of the quantitative survey, along with the Knowledge to Action framework and Theory of Planned Behavior, guided the development of the semi-structured interview protocol. Convenience and snowball sampling recruited physicians, physician assistants, and nurses in multiple subdivisions within the Division of Cardiology at Columbia University Irving Medical Center (CUIMC). Descriptive statistical analysis was performed on survey data. Qualitative interviews were conducted with survey respondents who volunteered to participate. Interviews were audio recorded, transcribed, and analyzed thematically. A descriptive review of the educational materials offered by the Division of Cardiology to CHCPs from 2018-2022 was conducted to identify the specific FH knowledge domains presented. Results: Seventy (70) completed surveys were analyzed (30.2% response rate) for total knowledge scores (out of 19) and knowledge domain scores by professional degree/license, subdivision, years in clinical practice at CUIMC, and years in clinical practice. CHCPs with MDs (x̄ = 12.5), at CUIMC for 6-10 years (x̄ = 11.7), in clinical practice for 1-5 years (x̄ = 11.4), and within the subdivision of Inpatient Services (x̄ = 15.5) had the highest average total knowledge scores. CHCPs with a professional degree or license of RN (x̄ = 7.5), at CUIMC for less than 1 year (x̄ = 9.4), in clinical practice for 6-10 years (x̄ = 9.8), and within the subdivision of Cath Lab (x̄ = 8.7) had the lowest average knowledge scores. Additionally, MDs scored highest across the knowledge domains of description, prognosis, prevalence, diagnostic criteria, and management, while NPs scored highest in the knowledge domain of inheritance. RNs scored lowest across the knowledge domains of description, prognosis, inheritance, diagnostic criteria, and management. PAs scored lowest with regard to prevalence of FH. Twenty interviews were completed, and four overarching themes related to the practice behaviors of CHCPs in the screening, diagnosis, or management of FH in cardiology clinical practice were identified, including the variability in FH care; issues related to addressing FH at institutional, practice setting and individual levels; the importance of identifying FH early; and potential intervention approaches to overcome barriers to screening, diagnosing, and managing FH patients in cardiology practice. CHCPs with a professional degree of MD or with experiential knowledge of FH were the only CHCPs to describe the care of FH patients beyond the point of screening. A review of the educational materials offered by the Division of Cardiology to CHCPs from 2018-2022 revealed that only MDs, specifically fellows, were provided four lectures over the course of 4 years pertaining to FH. Conclusions: CHCPs across all professional degrees/licenses expressed limited knowledge of FH, which served as an individual-level barrier to screening, diagnosing, and managing patients with FH. Providers with didactic or experiential FH knowledge had positive control beliefs and higher levels of perceived behavioral control, leading them to provide FH care beyond the point of screening, such as making referrals, diagnosing, or managing FH patients. Future FH targeted interventions in cardiology clinical practice should aim to increase didactic FH-content knowledge, improve experiential FH knowledge as well as incorporate institutional, local, and national FH resources. A proposed intervention map and implementation plan called ID-FH (Identify & Diagnose-FH), which includes the development, dissemination, implementation, and evaluation of a CUIMC-specific FH clinical practice guideline describes ways to overcome individual, practice setting, and institutional barriers to addressing FH across the Division of Cardiology at CUIMC. Improving CHCPs’ ability to screen, diagnose, and manage FH patients is vital to reducing FH-related morbidity and mortality, as well as improving immediate and long-term FH health outcomes