Evaluating a clinical tool (FAMCAT) for identifying familial hypercholesterolaemia in primary care: a retrospective cohort study

BACKGROUND: Familial hypercholesterolaemia (FH) is an inherited lipid disorder causing premature heart disease, which is severely underdiagnosed. Improving the identification of people with FH in primary care settings would help to reduce avoidable heart attacks and early deaths. AIM: To evaluate the accuracy of the familial hypercholesterolaemia case ascertainment identifcation tool (FAMCAT) for identifying FH in primary care. DESIGN & SETTING: A retrospective cohort study of 1 030 183 patients was undertaken. Data were extracted from the UK Royal College of General Practitioners (RCGP) Research and Surveillance Centre (RSC) database. Patient were aged >16 years. METHOD: The FAMCAT algorithm was compared with methods of FH detection recommended by national guidelines (Simon Broome diagnostic criteria, Dutch Lipid Clinic Network [DLCN] Score, and cholesterol levels >99(th) centile). Discrimination and calibration were assessed by area under the receiver operating curve (AUC) and by comparing observed versus predicted cases. RESULTS: A total of 1707 patients had a diagnosis of FH. FAMCAT showed a high level of discrimination (AUC = 0.844, 95% confidence interval [CI] = 0.834 to 0.854), performing significantly better than Simon Broome criteria (AUC = 0.730, 95% CI = 0.719 to 0.741), DLCN Score (AUC = 0.766, 95% CI = 0.755 to 0.778), and screening cholesterols >99 th centile (AUC = 0.579, 95% CI = 0.571 to 0.588). Inclusion of premature myocardial infarction (MI) and fitting cholesterol as a continuous variable improved the accuracy of FAMCAT (AUC = 0.894, 95% CI = 0.885 to 0.903). CONCLUSION: Better performance of the FAMCAT algorithm, compared with other approaches for case finding of FH in primary care, such as Simon Broome criteria, DLCN criteria or very high cholesterol levels, has been confirmed in a large population cohort.