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

ABSTRACT:

Aims

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 (EHRs). In this study, we investigated the sensitivity of this and other algorithms in a genetically confirmed FH population.

Methods and results

All patients with a healthcare insurance-related coded diagnosis of 'primary dyslipidaemia' between 2018 and 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 with ot

SUBMITTER: Mohammadnia N 

PROVIDER: S-EPMC9779787 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature