NICE update: revises guideline on inherited high cholesterol condition

Recently the evidence was reviewed for case finding and diagnosis, identification using cascade testing and management using statins. An updated guideline was published last month.

The prevalence of heterozygous FH in the UK population is said to be one in 250, which means that in England about 220,000 people are affected. In England, only around 18,000 people are diagnosed with FH, so there could be about 202,000 with undiagnosed FH. The elevated serum cholesterol concentrations that characterise FH lead to a greater than 50% risk of coronary heart disease by the age of 50 in men, and at least a 30% risk in women aged 60.

Currently FH is diagnosed by clinical assessment and a lipid profile. DNA testing plays a limited role and people are assessed as they present to healthcare services with little active case finding. 

The guideline recommends systematically searching primary care records for people at high risk. Currently case finding for FH is done opportunistically, and people with high cholesterol are assessed as they present in primary care. 

Under the newly recommended active strategy, primary care settings would identify people with potential FH, assess them and, if appropriate, refer for genetic diagnosis. There will be increased costs from staff workload and referrals of those with suspected FH for an outpatient appointment in secondary care. 

The guideline recommends carrying out cascade testing using DNA testing to identify relatives of people with a genetic diagnosis of FH. Testing relatives of people with FH is cost-effective, especially when children and young people can be identified. There will be increased costs from DNA testing and referrals
for an outpatient appointment. 

However, DNA testing for known relatives is cheaper than testing for an unknown mutation because the specific mutation is known.  

There are also anticipated longer term savings (see NICE’s resource impact report) from a reduction in premature cardiac disease and reducing premature mortality in people who have been successfully identified, diagnosed and treated.