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GPs should go through patient records to identify FH risk, says NICE

GPs should look at cholesterol records to help identify the ‘majority’ of undiagnosed people at risk of familial hypercholesterolaemia in updated NICE guidelines released today.

Just 15% of the 260,000 people in the UK thought to have FH have been diagnosed and the new guidance hopes to spot the 'majority' at risk . NICE is recommending that doctors use DNA testing for at-risk family members to spot FH early.

Siblings and children of people with FH have a 50% risk of also having the condition.

NICE said that primary care records should be examined to spot patients with a total cholesterol level greater than 7.5 mmol/l for those under 30 and 9.0 mmol/l for people aged 30 or more.

NICE said: ‘These thresholds should identify those at risk of FH.’

The update also recommends using the ‘gold-standard’ of DNA testing to identify affected relatives through cascade testing. It no longer recommends using low density lipoprotein cholesterol (LDL-C) measurement as it is not always accurate.

People who develop cardiovascular disease before they are 60, or those with a close relative with the disease, should be offered a total cholesterol reading to see if they are at risk, according to the update.

Men with FH can have a 50% chance of a heart attack, or stroke before they are 50. In women the risk is nearly one in three by the time they reach 60.

The NICE guidelines update those issued in 2008, which advised for the first time that children with FH should be referred for a genetic test before the age of 10.

Professor Mark Baker, who heads the NICE guidelines centre, said: ‘Familial hypercholesterolaemia is a serious, often undiagnosed but relatively common condition, which, if treated early, ideally in childhood, will not affect normal life expectancy for the majority of people with it.

‘However without treatment people with FH have a high chance of developing CVD earlier than most people. Starting on the right treatment, usually with a high-intensity statin, as soon as possible is important, but only a fraction of people with the condition know they have it.’

Professor Baker added: ‘We want this updated guidance to make a difference to people with FH by recommending the most effective ways we currently have of finding people with the condition.’

Charity Heart UK welcomed the new guidance but said it did not go far enough, urging for 'a national screening programme'.

CEO Jules Payne said: 'GPs, cardiologists and nurses need support to help them diagnose FH to reduce the risk of strokes, heart attacks and deaths.

'GPs do not routinely carry out cholesterol tests in most patients until they reach the age of 40 when they are eligible for an NHS Health Check. Therefore there are many invisible patients with FH who are at risk.'

What is new in NICE FH guidance?

Case finding

Systematically search primary care records for people:

  • younger than 30 years, with a total cholesterol concentration greater than 7.5 mmol/l and
  • 30 years or older, with a total cholesterol concentration greater than 9.0 mmol/l as these are the people who are at highest risk of FH.

For people with a personal or family history of premature coronary heart disease (an event before 60 years in an index individual or first-degree relative), but whose total cholesterol is unknown, offer to measure their total cholesterol.

Use the Simon Broome or Dutch Lipid Clinic Network (DLCN) criteria to make a clinical diagnosis of FH in primary care settings. This should be done by a healthcare professional competent in using the criteria.

Refer the person to an FH specialist service for DNA testing if they meet the Simon Broome criteria for possible or definite FH, or they have a DLCN score greater than 5.

In children aged 0–10 years at risk of FH because of 1 affected parent, offer a DNA test at the earliest opportunity. If testing of a child at risk has not been undertaken by the age of 10 years, offer an additional opportunity for a DNA test.


Carry out cascade testing using DNA testing to identify affected first- and second- and, when possible, third-degree biological relatives of people with a genetic diagnosis of FH.


Offer a high-intensity statin with the lowest acquisition cost as the initial treatment for all adults with FH and aim for at least a 50% reduction in LDL‑C concentration from the baseline measurement.

For recommendations on managing primary heterozygous familial hypercholesterolaemia in people whose LDL‑C levels are not adequately controlled despite maximal tolerated lipid-lowering therapy, see the NICE technology appraisal guidance on alirocumab and evolocumab.

Children and young people

Offer statins to children with FH by the age of 10 years or at the earliest opportunity thereafter.

For children and young people with FH, consider a statin that is licensed for use in the appropriate age group.

Source: NICE

Readers' comments (7)

  • Cobblers

    Let's get GPs to do one more job. Amongst all the other things they have to do.

    Tell you what I'll get round to it when I get some spare time.

    Spare time remember that? No? Oh dear, job is unlikely to get done then, worthy as it is.

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  • NICE should go through patient records to work out FH risk. It would give them something more harmless to do than trotting out relentless bullshit.

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  • Jones the Tie

    right ho, I'll pop and do that work for nowt then in the time I haven't got doing all the other stuff....
    All very commendable but unrealistic. I remember in med school being taught about screening and how there must really be adequate resource to cope with the workload etc. Anyone at NICE remember this at all?

    Usual ivory tower mis-understanding of the problems at the coalface

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  • David Banner

    No problem, make it an enhanced service, let's see if the money offered covers the cost of the extra work, and we'll consider it.
    If you think we'll do it at our own expense, then you're having a laugh.

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  • David you are right the service needs to be funded and adequately if it is not it will not be done.More fiddling while Rome burn by supposed "healthcare leaders".As I have said before the real leaders are those that are vacating the poisonous cesspit that is the UK those that are leaving the profession ,retiring or changing their careers and those that are locking to control their work life balance.More BS from these idiot adds to the load to break the camels back.Once it is broken it will take a generation to fix.

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  • will Prof Mark lead the way by donating from his salary a percentage cost of every patient tested? if not, why not?

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  • fundamental misconception by NICE. " primary care records..." records don't populate themselves! This is unfunded screening without going through the National Screening Committee and we haven't got time or energy to do it.

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