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Assessing Pediatric Provider Attitudes Regarding the Diagnosis and Management of Familial Hypercholesterolemia

Reynolds, Karmen M (2024) Assessing Pediatric Provider Attitudes Regarding the Diagnosis and Management of Familial Hypercholesterolemia. Master's Thesis, University of Pittsburgh. (Unpublished)

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Familial hypercholesterolemia (FH) is a common autosomal dominant inherited disorder which greatly increases a person’s risk for cardiovascular disease and premature mortality. Current guidelines from the National Heart Lung and Blood Institute (NHLBI) recommend universal pediatric screening for FH, but the actual screening rate is only about 20%. The underdiagnosis of FH is recognized as an urgent public health problem. FH has been named a CDC Tier 1 Genomics Application condition and is easily diagnosed through lipid panel screening and genetic testing. Adverse health effects of FH can be managed with early medical intervention, but it is often not diagnosed until after a serious cardiac event. Early identification of FH also provides an opportunity for cascade screening which benefits family members with pre-clinical FH. This paper seeks to elucidate potential reasons for low screening adherence in the context of pediatric provider attitudes toward and understanding of FH.

Provider attitudes were assessed in the context of a Continuing Education and Quality Improvement (CEQI) project entitled “Addressing Familial Hypercholesterolemia” which was offered at no cost to participants. Of the 278 participants (N = 278) who registered for the training, 27 participants (9.7%) completed Pre- and Post-Knowledge Assessments and provided qualitative feedback on their perceptions of FH, the efficacy and feasibility of universal lipid screening, and planned changes to their clinical practice based on the knowledge gained.

Results showed that prior to the educational program, providers had poor knowledge of FH as a disease and of the reasoning why universal pediatric screening for FH is important. Participants also reported low confidence in managing FH in their patients, which was also attributed by some to be based in a lack of knowledge. However, upon completion of the training, all participants reported increased knowledge and confidence about FH screening and management, with the average ratings for each category increasing between 39.7%-52.9%. Furthermore, chart audit data showed that 73.0% of the participants’ patients seen after participation had lipid panels ordered to screen for FH. These preliminary findings demonstrate that increasing knowledge and awareness of FH may ameliorate underdiagnosis of FH and poor adherence to screening guidelines.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Reynolds, Karmen
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairEdick, Mathew
Committee MemberDurst, Andrea Ladurst@pitt.eduadurst
Committee MemberDeem, Michael Jmdeem@pitt.edumdeem
Committee MemberWilliams, John Vjvw@pitt.edujvw
Date: 17 May 2024
Date Type: Publication
Defense Date: 10 April 2024
Approval Date: 17 May 2024
Submission Date: 25 April 2024
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 70
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MPH - Master of Public Health
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: familial hypercholesterolemia, pediatric lipid screening, hyperlipidemia, FH, screening, public health, cardiovascular disease, genomics, education, provider education
Date Deposited: 17 May 2024 18:04
Last Modified: 17 May 2024 18:04


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