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Would raising the total cholesterol diagnostic cut-off from 7.5mmol/L to 9.3mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?

Futema, M and Kumari, M and Boustred, C and Kivimaki, M and Humphries, SE (2015) 'Would raising the total cholesterol diagnostic cut-off from 7.5mmol/L to 9.3mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?' Atherosclerosis, 239 (2). 295 - 298. ISSN 0021-9150

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Abstract

© 2015 The Authors. A previous report suggested that 88% of individuals in the general population with total cholesterol (TC) > 9.3mmol/L have familial hypercholesterolaemia (FH). We tested this hypothesis in a cohort of 4896 UK civil servants, mean (SD) age 44 (±6) years, using next generation sequencing to achieve a comprehensive genetic diagnosis. 25 (0.5%) participants (mean age 49.2 years) had baseline TC > 9.3mmol/L, and overall we found an FH-causing mutation in the LDLR gene in seven (28%) subjects. The detection rate increased to 39% by excluding eight participants with triglyceride levels over 2.3mmol/L, and reached 75% in those with TC > 10.4mmol/L. By extrapolation, the detection rate would be ~25% by including all participants with TC > 8.6mmol/L (2.5 standard deviations from the mean). Based on the 1/500 FH frequency, 30% of all FH-cases in this cohort would be missed using the 9.3mmol/L cut-off. Given that an overall detection rate of 25% is considered economically acceptable, these data suggest that a diagnostic TC cut-off of 8.6mmol/L, rather than 9.3mmol/L would be clinically useful for FH in the general population.

Item Type: Article
Subjects: H Social Sciences > H Social Sciences (General)
R Medicine > R Medicine (General)
Divisions: Faculty of Social Sciences > Institute for Social and Economic Research
Depositing User: Jim Jamieson
Date Deposited: 13 Apr 2015 14:14
Last Modified: 17 Aug 2017 17:37
URI: http://repository.essex.ac.uk/id/eprint/13506

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