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

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. © Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.