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Familial high cholesterol cases going undiagnosed

Report of a story in the news   |   By Dr Philippa Brice   |   Published 27 January 2011

Sources: RCP audit, BBC news

New data suggests that more than 100,000 people at high risk of the common genetic condition familial hypercholesterolaemia (FH) have not been offered diagnostic testing. 

FH is genetic and there is a high chance that close family members of people diagnosed with the condition may also be affected. Clinical guidance recommends that genetic and cholesterol testing should be offered to them (an approach known as cascade screening). Diagnosis of FH is important because management with cholesterol-lowering medication, lifestyle and dietary advice can prevent the early onset of serious cardiac disease and premature death. An audit by the Royal College of Physicians found that 85% of hospital trusts could not access funding for FH genetic testing, leading to the estimate of 100,000 undiagnosed across the UK. 74% did not offer any paediatric FH services. British Heart Foundation medical director Professor Peter Weissberg said: "It's long overdue that familial hypercholesterolaemia services come up to scratch to stop lives across the UK being needlessly lost". 

Comment:

The need for improved and more equitable access to genetic testing and services for families with forms of inherited cardiac conditions across the UK was identified in a PHG Foundation report (see previous news), with recommendations for the development of specialist services. Though moves have been made in the right direction, clearly there is plenty still to be done to make the most of existing, cost-effective genetic testing to improve population health.  

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