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Tuesday 22nd May 2018

Cholesterol test warning

26th June 2009

Limited testing across England and Wales means that thousands of people are unaware that may have a high genetic risk of heart disease.


Experts believe that when a person is diagnosed with familial hypercholesterolaemia (FH), an inherited condition causing high cholesterol, other members of the family should be screened for it.

But an audit by the Royal College of Physicians found genetic testing is not happening in many places.

The study looked at 248 patients in 12 hospitals in England and Wales found that while care for those diagnosed was generally good, very few relatives were being systematically tested for FH.

The condition can be effectively treated early with statins but if left untreated it can lead 50% risk of heart disease in men by the age of 50 and at least 30% in women by the age of 60.

Professor Steve Humphries, director of the Centre for Cardiovascular Genetics at the British Heart Foundation Laboratories in London and audit leader, said screening was a key priority but that most NHS trusts had not yet been able to find funding for the DNA testing or the nursing and support staff to carry out the cascade family testing.

The National Institute for Health and Clinical Excellence (NICE) estimated in 2008 that one in 500 people have FH and siblings or children of a person with the condition have a 50% chance of having it themselves.

It recommended those diagnosed be referred to a specialist for their family members to be offered screening.


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