GPs have been told to stop using cardiovascular risk tools such as Framingham to diagnose familial hypercholesterolaemia (FH), because they significantly underestimate the risk of the condition.
Currently, 15,000 patients have been diagnosed with FH in England but it is estimated that the actual figure is closer to 110,000.
If left untreated, half of all men with FH will go on to suffer a heart attack by the age of 50, and 30 per cent of all women with FH will have a heart attack by age 60.
Speaking at the launch of the NICE FH guidelines in central London last week, Dr Rubin Minhas, chairman of the NICE FH guideline group, told GP that cardiovascular risk tools were 'inappropriate for use in patients with FH'.
'FH is under-recognised in primary care and there is a common misconception that risk tools can be used for FH.
'A cardiovascular risk tool or risk calculator is designed to categorise people into low and high-risk groups. But we already know that people with FH have a high risk of developing cardiovascular disease.'
The tools underestimate FH risk significantly because they do not account for high cholesterol levels from birth, Dr Minhas warned.
Dr Terry McCormack, chairman of the Primary Care Cardiovascular Society and a GP in North Yorkshire, said: 'As far as treating cholesterol is concerned you don't need to use a risk calculator. But you do need to use one to identify if you need to treat BP and to decide if an FH patient needs aspirin.'
The NICE FH guidance recommends the use of cascade testing to identify those individuals with FH who will benefit from early treatment.
GPs should consider the possibility of FH in patients if they have a total cholesterol of over 7.5 mmol/l and should ask about their family history, including the age at which any relatives developed heart disease and whether they smoked.
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