Case-finding and genetic testing for familial hypercholesterolaemia in primary care

Qureshi, Nadeem; Akyea, Ralph Kwame; Dutton, Brittany; Leonardi-Bee, Jo; Humphries, Steve E; Weng, Stephen; Kai, Joe

Abstract

Objective: Familial Hypercholesterolaemia (FH) is a common inherited disorder causing premature heart disease and death. We have developed novel case-finding algorithms (FAMCAT version 1 & 2) for application in primary care, to improve detection of FH and have evaluated their performance, at 95% specificity, to detect genetically-confirmed FH in the general population. We also compared these algorithms to established clinical case-finding criteria.

Methods: Prospective validation study, in 14 general practices, recruiting participants from the general adult population with cholesterol documented. For 260 participants with available health records, we determined possible FH cases based on FAMCAT thresholds, Dutch Lipid Clinic Network (DLCN) score, Simon-Broome criteria and national recommended cholesterol thresholds (total cholesterol > 9.0 mmol/L if ≥30 years or > 7.5 mmol/L if

Citation

Qureshi, N., Akyea, R. K., Dutton, B., Leonardi-Bee, J., Humphries, S. E., Weng, S., & Kai, J. (2021). Case-finding and genetic testing for familial hypercholesterolaemia in primary care. Heart, 107(24), 1956-1961. https://doi.org/10.1136/heartjnl-2021-319742

• Journal Article Type: Article
• Acceptance Date: Aug 27, 2021
• Online Publication Date: Sep 14, 2021
• Publication Date: 2021-12
• Deposit Date: Sep 2, 2021
• Publicly Available Date: Sep 14, 2021
• Journal: Heart
• Print ISSN: 1355-6037
• Electronic ISSN: 1468-201X
• Publisher: BMJ
• Peer Reviewed: Peer Reviewed
• Volume: 107
• Issue: 24
• Pages: 1956-1961
• DOI: https://doi.org/10.1136/heartjnl-2021-319742
• Keywords: Cardiology and Cardiovascular Medicine
• Public URL: https://nottingham-repository.worktribe.com/output/6140597
• Publisher URL: https://heart.bmj.com/content/early/2021/09/14/heartjnl-2021-319742