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Application of a risk stratification tool for familial hypercholesterolaemia in primary care: an observational cross-sectional study in an unselected urban population

Carvalho, C; Williams, C; Raisi-Estabragh, Z; Rison, S; Patel, RS; Timmis, A; Robson, J; (2021) Application of a risk stratification tool for familial hypercholesterolaemia in primary care: an observational cross-sectional study in an unselected urban population. Heart , 107 (15) pp. 1220-1225. 10.1136/heartjnl-2020-318714. Green open access

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Abstract

Objective: The Familial Hypercholesterolaemia Case Ascertainment Tool (FAMCAT) has been proposed to enhance case finding in primary care. In this study, we test application of the FAMCAT algorithm to describe risks of familial hypercholesterolaemia (FH) in a large unselected and ethnically diverse primary care cohort. Method: We studied patients aged 18–65 years from three contiguous areas in inner London. We retrospectively applied the FAMCAT algorithm to routine primary care data and estimated the numbers of possible cases of FH and the potential service implications of subsequent investigation and management. Results: Of the 777 128 patients studied, the FAMCAT score estimated between 11 736 and 23 798 (1.5%–3.1%) individuals were likely to have FH, depending on an assumed FH prevalence of 1 in 250 or 1 in 500, respectively. There was over-representation of individuals of South Asian ethnicity among those likely to have FH, with this cohort making up 41.9%–45.1% of the total estimated cases, a proportion which significantly exceeded their 26% representation in the study population. Conclusions: We have demonstrated feasibility of application of the FAMCAT as an aid to case finding for FH using routinely recorded primary care data. Further research is needed on validity of the tool in different ethnic groups and more refined consideration of family history should be explored. While FAMCAT may aid case finding, implementation requires information on the cost-effectiveness of additional health services to investigate, diagnose and manage case ascertainment in those identified as likely to have FH.

Type: Article
Title: Application of a risk stratification tool for familial hypercholesterolaemia in primary care: an observational cross-sectional study in an unselected urban population
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/heartjnl-2020-318714
Publisher version: https://doi.org/10.1136/heartjnl-2020-318714
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Science & Technology, Life Sciences & Biomedicine, Cardiac & Cardiovascular Systems, Cardiovascular System & Cardiology, hyperlipidaemias, coronary artery disease, delivery of healthcare, electronic health records, CORONARY-HEART-DISEASE, MORTALITY
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Population Science and Experimental Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/10132919
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