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Genetic link to high cholesterol missed

25th January 2011

An audit of the health service has revealed that around 100,000 patients in the UK have not been given tests for familial hypercholesterolaemia.

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The disease is a genetic one and when a patient is diagnosed, other family members should also be given tests.

The Royal College of Physicians carried out an audit of 2,500 patients which showed that only a small number of relatives were given the tests.

Familial hypercholesterolaemia affects around one in 500 people in the UK. It raises the level of "bad" cholesterol in the blood.

If it is left untreated then 50% of males will develop heart disease before the age of 55 and one third of females by the age of 60.

The National Institute for Health and Clinical Excellence has recommended that family members are given DNA and cholesterol tests.

However the audit found that only 15% of trusts were able to access DNA screening, meaning an estimated 100,000 people had not been given a diagnosis of familial hypercholesterolaemia.

The audit's author, Professor Steve Humphries, said: "Undoubtedly it is cost effective to test and treat familial hypercholesterolaemia."

"It saves lives in five to 10 years time, but trusts balance budgets by April so it is hard to get these measures high enough up the priority list."

 

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