A Huddersfield man is one of the first patients to undergo a new genetic testing system for inherited heart disease.
NHS England (North) and the British Heart Foundation have joined forces to launch a region-wide screening service for the faulty gene which causes Familial Hypercholesterolaemia.
Calderdale and Huddersfield NHS Foundation Trust is one of four test centres in Yorkshire and Humber. The other are York, Hull and East Yorkshire and Leeds Teaching Hospitals NHS Trust.
Michael Brierley, from Fixby, had raised cholesterol and a strong family history of cardiovascular disease.
His father died aged 70 from a stroke and had had a heart attack in his 60s. His mother had a coronary artery bypass graft (CABG) aged 72 following several years of cardiovascular disease. His younger brother Colin had already had a CABG at the age of 45.
Michael has two sons who are now 43 and 40, one with raised cholesterol and the other had a normal cholesterol level. His elder son has had a heart attack and has undergone a successful surgery for a CABG.
Tests have now shown his brother and eldest son have the gene and his youngest son hasn’t.
Tests will now be carried out on any children which his sons may have in future and prevent early cardiovascular disease if they have inherited the gene. Michael also has four cousins and the testing will now be extended to them.
The Trust’s Medical director, David Birkenhead, said: “ We are delighted to be involved in developing this important service and to give our patients early access to these diagnostic tests which will give them and their families the opportunity to reduce their risks of heart disease in the future.”
Familial hypercholesterolaemia (FH) is a genetic condition that causes abnormally high cholesterol, which leads to coronary heart disease and can cause a potentially fatal heart attack at a young age. It’s estimated that up to 260,000 people are living with it across the UK, but around 85% are undiagnosed.
It now means that if someone living in Huddersfield has unusually high cholesterol and a family history of early onset coronary heart disease their DNA can be tested for faulty genes known to cause FH. If one is found, then their immediate family can be contacted to see if they want to be tested. Likewise, those who are unfortunate enough to have developed coronary heart disease at a young age can be screened for FH where appropriate.
FH, once diagnosed, is a manageable condition. People can be prescribed cholesterol lowering drugs such as statins and are advised to lead a healthy lifestyle to keep their cholesterol as low as possible.
The BHF has provided nearly £250,000 to fund four specialist FH nurses who will provide testing in hospitals across the region.
Chief Executive at the British Heart Foundation Simon Gillespie said: “FH is commonly known as a hidden killer as the majority of people with the condition are undiagnosed and at risk of a potentially deadly heart attack. But it doesn’t have to be this way.
“Treatment to prevent heart attacks is straightforward once the condition has been identified. We are committed to finding people with FH so that they receive the right treatment to achieve a normal life expectancy. So far, almost 2,000 people across the UK have been diagnosed with the faulty gene through BHF funded cascade testing.
“BHF has funded research into FH for more than 30 years and our ultimate goal is consistent access to genetic testing across the UK. Today’s launch is a huge step towards achieving that goal, and could pave the way for its rollout nationwide.”