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Original research
Application of a risk stratification tool for familial hypercholesterolaemia in primary care: an observational cross-sectional study in an unselected urban population
  1. Chris Carvalho1,
  2. Crystal Williams1,
  3. Zahra Raisi-Estabragh2,3,
  4. Stuart Rison1,
  5. Riyaz S Patel2,3,
  6. Adam Timmis2,3,
  7. John Robson1
  1. 1Institute of Population Health Sciences, Queen Mary University of London, London, UK
  2. 2Barts Heart Centre, Saint Bartholomew's Hospital, London, UK
  3. 3William Harvey Institute, NIHR Barts Biomedical Research Centre, Queen Mary University of London, London, UK
  1. Correspondence to Dr John Robson, Institute of Population Health Sciences, Queen Mary University of London, London E1 2AB, UK; j.robson{at}qmul.ac.uk

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.

  • hyperlipidaemias
  • coronary artery disease
  • delivery of healthcare
  • electronic health records

Data availability statement

Data are available upon reasonable request. All data relevant to the study are included in the article or uploaded as supplemental information. Data are extracted from patient record systems held by GP practices. Outputs of the data extracted are collated and in the format of tables within the paper or in supplemental information.

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Data availability statement

Data are available upon reasonable request. All data relevant to the study are included in the article or uploaded as supplemental information. Data are extracted from patient record systems held by GP practices. Outputs of the data extracted are collated and in the format of tables within the paper or in supplemental information.

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Footnotes

  • Contributors JR and CC conceived the study. CW conducted the data extraction and the analysis. All authors contributed to the planning of the study and the manuscript.

  • Funding This study received no specific funding. JR, SR, CW and CC are employed by Queen Mary University of London. AT was and RSP is employed by Barts Health Trust. SR was supported by Barts Charity, JR and CW were supported by Health Data Research UK. ZR-E is supported by a British Heart Foundation Clinical Research Training Fellowship (FS/17/81/33318).

  • Competing interests RSP reports personal fees from SANOFI, grants from AMGEN, and personal fees from NOVARTIS, outside the submitted work.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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