Electronic health record-based facilitation of familial hypercholesterolaemia detection Sensitivity of different algorithms in genetically confirmed patients

Mohammadnia, Niekbachsh; Akyea, Ralph K.; Qureshi, Nadeem; Bax, Willem A.; Cornel, Jan H.

Abstract

Familial hypercholesterolaemia (FH) is a disorder of LDL-cholesterol clearance, resulting in increased risk of cardiovascular disease. Recently, we developed a Dutch Lipid Clinic Network (DLCN) criteria-based algorithm to facilitate FH detection in electronic health records (EHR). In this study, we investigated the sensitivity of this and other algorithms in a genetically confirmed FH population. All patients with a healthcare insurance-related coded diagnosis of ‘primary dyslipidaemia’ between 2018-2020 were assessed for genetically confirmed FH. Data were extracted at the time of genetic confirmation of FH (T1) and during the first visit in 2018-2020 (T2). We assessed the sensitivity of algorithms on T1 and T2 for DLCN≥6 and compared to other algorithms (FAMCAT, MEDPED, and Simon Broome [SB]) using EHR-coded data and using all available data (i.e., including non-coded free text). 208 patients with genetically confirmed FH were included. The sensitivity (95% CI) on T1 and T2 with EHR-coded data for DLCN≥6 was 19% (14-25%) and 22% (17-28%), respectively. When using all available data, the sensitivity for DLCN≥6 was 26% (20-32%) on T1 and 28% (22-34%) on T2. For FAMCAT, the sensitivity with EHR-coded data on T1 was 74% (67-79%) and 32% (26-39%) on T2, whilst sensitivity with all available data was 81% on T1 (75-86%) and 45% (39-52%) on T2. For MEDPED and SB, using all available data, the sensitivity on T1 was 31% (25-37%) and 17% (13-23%), respectively. The FAMCAT algorithm had significantly better sensitivity than DLCN, MEDPED, and SB. FAMCAT has the best potential for FH case-finding using EHRs.

Citation

Mohammadnia, N., Akyea, R. K., Qureshi, N., Bax, W. A., & Cornel, J. H. (2022). Electronic health record-based facilitation of familial hypercholesterolaemia detection Sensitivity of different algorithms in genetically confirmed patients. European Heart Journal – Digital Health, 3(4), 578-586. https://doi.org/10.1093/ehjdh/ztac059

• Journal Article Type: Article
• Acceptance Date: Aug 30, 2022
• Online Publication Date: Oct 17, 2022
• Publication Date: 2022-12
• Deposit Date: Oct 17, 2022
• Publicly Available Date: Oct 17, 2022
• Journal: European Heart Journal - Digital Health
• Electronic ISSN: 2634-3916
• Publisher: Oxford University Press
• Peer Reviewed: Peer Reviewed
• Volume: 3
• Issue: 4
• Pages: 578-586
• DOI: https://doi.org/10.1093/ehjdh/ztac059
• Keywords: Energy Engineering and Power Technology; Fuel Technology
• Public URL: https://nottingham-repository.worktribe.com/output/12599515
• Publisher URL: https://academic.oup.com/ehjdh/advance-article/doi/10.1093/ehjdh/ztac059/6762321