GPs and nurses have been told they must do more to seek out people at risk of an inherited condition that causes exceptionally high cholesterol.
The National Institute of Health and Care Excellence is calling for a systematic search of primary care records to identify those at risk of familial hypercholesterolaemia (FH).
“We want this updated guideline to make a difference to people with FH”
Its new guidance, published on 2 November, also calls for genetic testing of relatives of people known to have FH to find out if they too have the condition.
However, some stakeholders argue it does not go far enough and have called for a national screening programme to help identify the thousands who have the condition without knowing.
FH is caused by a genetic defect that affects the body’s ability to break down cholesterol, causing high levels to accumulate in the blood and increasing the risk of early heart disease, including sudden and unexpected heart attacks and stroke.
While it is a relatively common condition – affecting up to 260,000 people in the UK – the vast majority of those affected, about 85%, remain undiagnosed.
Under the new guidance, primary care services have been told to examine their records to pinpoint people with a total cholesterol level greater than 7.5mmol/l if under 30, or 9.0mmol/l if aged 30 or over.
“It’s disappointing that we have the ability to diagnose and treat people with FH”
Total cholesterol tests should also be offered to anyone with a personal or family history of premature coronary heart disease – defined as having the disease before the age of 60.
Those found to have FH or suspected FH should be referred to a specialist centre.
In addition, the guidance states that family members of those with FH should be offered DNA testing as siblings and children of people with the condition have a 50% risk of having it too.
People with FH will need lifelong treatment – usually with statins – but can stay healthy if the condition is spotted early.
The guideline recommends children with FH should be offered statins by the age of 10, or at the earliest opportunity after that.
Professor Mark Baker, director of the centre for guidelines at NICE, said: “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,” he said.
“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,” he added.
The British Heart Foundation said the new guidance had the potential to “save lives”. “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,” said BHF medical director Professor Sir Nilesh Samani.
“The BHF are committed to working with the NHS to implement this guidance as quickly as possible, including through the widespread rollout of genetic testing for families affected by FH,” he added.
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However, the charity Heart UK said it feared that without a national screening programme many people with the condition would continue to go undiagnosed.
“GPs, cardiologists and nurses need support to help them diagnose FH to reduce the risk of strokes, heart attacks and deaths,” said its chief executive Jules Payne.
“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,” she said. “Therefore, there are many invisible patients with FH who are at risk.”
Public Health England is also working with NICE, NHS England, the BHF and Heart UK, to publish a resource to help local areas implement the new guidelines.