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People at risk of familial hypercholesterolaemia should have DNA test, says NICE

BMJ 2017; 359 doi: https://doi.org/10.1136/bmj.j5112 (Published 02 November 2017) Cite this as: BMJ 2017;359:j5112

Primary care medical records should be systematically examined to identify people with familial hypercholesterolaemia, says updated guidance from the UK National Institute for Health and Care Excellence (NICE).1

Up to 260 000 people in the UK are thought to have the condition, but only a minority, around 15%, of cases have been diagnosed.2

NICE’s guideline recommends that records of patients who have a total cholesterol concentration greater than 7.5 mmol/L if they are under 30 years old or 9.0 mmol/L if they are aged 30 or over should be scrutinised.

NICE said that these thresholds …

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