The guideline recommends those at risk of FH should be offered DNA tests to confirm they have the condition. Previously, low density lipoprotein cholesterol (LDL-C) levels have been used but they are not always accurate.
Professor Mark Baker, director of the centre for guidelines at NICE, 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.
“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.”
FH is a genetic condition that causes abnormally high levels of cholesterol to build up in the body. If untreated, FH increases risk of cardiovascular disease (CVD) including heart attack and stroke.
At the moment only 15% of the estimated 260,000 people in the UK with FH have been diagnosed, including just 600 of the 56,000 children thought to have the condition.
It is possible to identify family members who may be at risk; siblings and children of people with FH have a 50% risk of inheriting the condition. The guideline also recommends that people who develop cardiovascular disease before the age of 60 are offered a cholesterol reading to see whether they are at risk of FH.
Professor Sir Nilesh Samani, Medical Director at the British Heart Foundation, said:
“It’s disappointing that we have the ability to diagnose and treat people with FH, yet 85% remain undiagnosed and at risk of a potentially fatal heart attack or stroke. These new guidelines, based on the best available evidence, provide a clear approach to managing FH that could ultimately save lives.”
Treatment for FH is usually involves statins that reduces the high levels of cholesterol. These should be offered to children identified with FH by the age of 10, says NICE.