Abstract
BackgroundFamilial 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.AimTo evaluate the accuracy of the familial hypercholesterolaemia case ascertainment identifcation tool (FAMCAT) for identifying FH in primary care.Design & settingA 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.MethodThe 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 >99th centile). Discrimination and calibration were assessed by area under the receiver operating curve (AUC) and by comparing observed versus predicted cases.ResultsA 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).ConclusionBetter 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.
Highlights
Familial hypercholesterolaemia (FH) is a common inherited cause of raised cholesterol, affecting up to 320 000 adults in the UK and 834 000 adults in the US.[1]
This study evaluated the accuracy of a clinical tool (FAMCAT) in identifying FH in primary care
From the 1 031 11 patients identified from the Royal College of General Practitioners (RCGP) database, 1228 patients were excluded owing to having other inherited lipid disorder or having all of their cholesterol measurements documented after a diagnosis of FH
Summary
FH is a common inherited cause of raised cholesterol, affecting up to 320 000 adults in the UK and 834 000 adults in the US (one in 250 prevalence for the adult general population).[1]. Current approaches to clinically predict FH-c ausing mutation in primary care use the Simon Broome diagnostic criteria, DLCN criteria, Make Early Diagnosis to Prevent Early Deaths (MEDPED), or total cholesterol >99th percentile (>7.5 mmol/l aged 9.0 mmol/lL aged >30 years).[2,8] The Simon Broome criteria,[2] most commonly used in the UK, recommend that individuals with a total cholesterol concentration of >7.5 mmol/l and a family history of premature heart disease should be classified as having probable FH in primary care and should be referred for further lipid specialist assessment. 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
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