GPs should scour records for familial hypercholesterolaemia risk, says NICE

GPs should systematically examine their records to identify patients who may have familial hypercholesterolaemia (FH), according to updated NICE guidance.

GPs should flag up patients under 30 with a total cholesterol level greater than 7.5mmol/l and those over 30 with a level of 9.0mmol/l or over as being at high risk of FH, NICE said.

In an updated guideline, which was last updated in 2008, NICE also recommends that people who develop cardiovascular disease before the age of 60 – or who have a close relative with the disease – should be offered a total cholesterol reading to determine if they are at risk of the disease.

FH, caused by a genetic defect, affects the body’s ability to break down cholesterol. In men, it can lead to a one in two chance of having a cardiovascular event before the age of 50, and in women a one in three chance before they are 60.

Treatment is life-long and is usually started with a high-intensity statin. The dose should be increased to the maximum licensed or tolerated dose, NICE said, and doctors should aim for a 50% reduction in LDL-C concentration.

NICE guidance

Children with the condition should be offered statins by age 10, or the earliest opportunity thereafter, it added.

The guideline recognises for the first time that DNA testing is now considered the gold standard for identifying affected relatives.

Professor Mark Baker, director of the centre for guidelines at NICE, said: ‘FH 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 cardiovascular disease 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.

‘We want this updated guideline to make a difference to people with FH by recommending the most effective ways we currently have of finding people who might have the condition.

Statin treatment

‘It’s also important that family members of people diagnosed with FH are traced and offered a gene test to see if they also have the condition and therefore need treatment.’

Charity Heart UK welcomed the guidance, but warned the recommendations do not go far enough.

Its CEO Jules Payne said: ‘While we welcome the guidance we are concerned that many people with FH will continue to be undiagnosed as there is no national screening programme for FH.

‘We still need to find FH in families, as 90% of people with FH don’t know they have the condition. 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.’

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