A MAJOR new testing programme which could uncover a deadly inherited gene is set to be rolled out by a team of medics at Sunderland Royal Hospital.
If left undiagnosed and untreated, familial hypercholesterolaemia (FH), which causes high blood pressure, can leave those affected at high risk of dying suddenly from a heart attack at a young age.
On average, FH shortens carriers’ life expectancy by 20 to 30 years if left untreated.
Now, a pioneering new technique will hope to uncover the illness before and identify those carrying it.
Using a specialist DNA blood test, an FH nurse can identify whether an individual with a clinical diagnosis of FH carries the gene alteration.
If this is discovered, their family members are then referred for family testing.
A team of FH nurses, hosted by City Hospitals Sunderland (CHS) NHS Foundation Trust, are to have responsibility for the day-to-day running of the testing and ensure that members of affected families have access to genetic testing.
The service will be delivered through the regional network of lipid clinics, currently running in nine hospitals across the North East and Cumbria, which provide specialist support to people with high blood fats.
“This is major advance in the fight against ill health,” said a spokesman for CHS.
“We are delighted to be hosting the programme - it will have a major long-term impact on alerting patients and their families to problems and preventing early deaths from heart disease.”
Once diagnosed with FH, early treatment can reduce cholesterol to a normal level and, together with lifestyle advice, means that a carrier will have the same life expectancy as the general population.
Dr Dermot Neely, chairman of the Lipid Specialists Advisory Group, part of the Northern Strategic Clinical Network, said: “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.”