Hidden heart condition plea

Friday June 26th, 2009

An undiagnosed genetic heart condition is putting thousands of lives at risk, an expert will warn today.

The chance of a person developing heart disease is much higher if they suffer from familial hypercholesterolaemia (FH) - an inherited condition causing high levels of low-density lipoprotein, or LDL, cholesterol.

It is estimated that 120,000 people in England have the condition, with 85 per cent remaining undiagnosed. Once diagnosed, it can be effectively controlled with statins. Patients on these cholesterol-lowering drugs have the same life expectancy as the general population.

Researchers from the UK's Royal College of Physicians carried out an audit of 248 cases at 14 hospitals in England and Wales.

They found that care for identified patients was "generally good", but that very few families were being systematically genetically screened. They also found a lack of facilities for diagnosing and treating children.

Researcher Professor Steve Humphries said: "The National Institute for Health and Clinical Excellence guidelines have laid out the best way to identify and treat people with FH, and we know that this will save lives and is very cost-effective.

"The problem at the moment is that most NHS Trusts haven't yet been able to find funding for the DNA testing or the nursing and support staff to carry out the cascade family testing. Sorting this out is a key priority."

Professor Humphries will present the findings to a Heart UK conference at Liverpool Hope University today (26 June).

Dr Mike Knapton of the British Heart Foundation commented: "Funding should be made available as a matter of urgency so we can test the family members of people with FH.

"The longer the health service delays making this vital investment lives will continue to be needlessly cut short."

Tags: Genetics | Heart Health | UK News

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