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Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?
- Source :
-
Atherosclerosis (00219150) . Apr2015, Vol. 239 Issue 2, p295-298. 4p. - Publication Year :
- 2015
-
Abstract
- A previous report suggested that 88% of individuals in the general population with total cholesterol (TC) > 9.3 mmol/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 > 9.3 mmol/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 2.3 mmol/L, and reached 75% in those with TC > 10.4 mmol/L. By extrapolation, the detection rate would be ∼25% by including all participants with TC > 8.6 mmol/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 9.3 mmol/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 8.6 mmol/L, rather than 9.3 mmol/L would be clinically useful for FH in the general population. [ABSTRACT FROM AUTHOR]
- Subjects :
- *MEDICAL care
*CHOLESTEROL
*TRIGLYCERIDES
*EXTRAPOLATION
*MONOGENIC functions
Subjects
Details
- Language :
- English
- ISSN :
- 00219150
- Volume :
- 239
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- Atherosclerosis (00219150)
- Publication Type :
- Academic Journal
- Accession number :
- 101944346
- Full Text :
- https://doi.org/10.1016/j.atherosclerosis.2015.01.028