Genetic testing to be offered in Cumbria for potential sufferers of deadly disease

First published in News

A GENETIC testing programme for a deadly condition which causes very high blood pressure has been funded in Cumbria.

Familial hypercholesterolaemia (FH) can cause sufferers to die suddenly of a heart attack if untreated, shortening life expectancy by around 20 or 30 years - but with a test treatment can be offered, while family members who may also carry the gene can be alerted.

Dr Dermot Neely, a consultant pathologist who will be overseeing the FH programme, said: “It’s great news that the region is finally going to have access to this ground-breaking test.

“FH is a silent killer which, unless diagnosed early, can have a devastating impact on affected families.

“If you have high cholesterol and have lost a parent, sibling or grandparent at a young age from a heart attack, you might have undiagnosed FH.

“Having a test which can diagnose a gene alteration means treatment can be started in time to prevent early deaths from heart disease.

“We have campaigned for five years to get this test funded for the region and I’m delighted that, thanks to the hard work and support of our partners in the FH consortium, we are finally getting there.”

The programme has been jointly funded by organisations including the British Heart Foundation, the Academic Health Science Network and the Clinical Commissioning Group.

Family members of those with the condition will be tested.

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