Three thousand people across England and Scotland have now been diagnosed with life-threateningly high cholesterol, thanks to cascade testing services the BHF helped to fund.

The funding followed a successful BHF-funded pilot in Wales, which has resulted in the Welsh Government rolling out genetic testing for FH across Wales.

Exceptionally high cholesterol

Familial Hypercholesterolaemia (FH) is an inherited condition that causes exceptionally high levels of bad cholesterol in their blood, increasing their risk of having a heart attack from a young age.

It is estimated that one in 250 people – or 260,000 – in the UK are living with FH. However, of that number, as many as 93% could still be undiagnosed.

The BHF estimates that if everyone with FH was identified and effectively treated, an estimated 3,200 heart attacks and 380 deaths caused by heart attacks could be prevented each year.

Funding specialist nurses to diagnose more people

In an effort to improve diagnosis of the condition, the BHF has funded 27 specialist nurses to deliver 12 cascade testing services across England and Scotland.

The testing process, also known as cascade testing, is where an individual is tested for a faulty gene. If one is found, the person’s immediate relatives are then tested to determine whether they also carry the faulty gene. The faulty gene that causes FH is dominant, meaning if one of your parents has FH, then there’s a 50% chance that you will inherit it.

When diagnosed, FH can be effectively treated through cholesterol-lowering treatments such as statins, which greatly reduce the risk of heart attack. In the NHS Long-Term plan, the NHS pledged to increase access to cascade testing programmes, with an ambition to help diagnose 25% of people with FH within 5 years.

Alan’s story

Alan Leaning was diagnosed with FH after he had a heart attack at his nephew’s birthday party, aged 31. Alan, who is an aircraft engineer from Luton, has a family history of heart attacks. His maternal grandfather died of a heart attack, and his uncle also had one and survived. Following his diagnosis, two of Alan’s children tested positive for the condition and are now being treated.

Alan, with his partner and three children.

Alan, now aged 36, said:

“For me, being diagnosed with FH is the only good thing to come from my heart attack. We now understand why so many people in my family have had heart attacks, and my family have been tested for the condition. Two of my three children have been diagnosed. Fortunately, we are able to manage the condition and my kids are being taught about what to eat and how bad smoking is.

“Before my diagnosis, I had no idea of what FH was. I had never heard of it and never thought that my family history of heart disease was anything more than bad luck. It’s scary to know that there are so many people out there living with FH who don’t know they have it. People should take a look at their family history and speak to their doctor if heart disease is a common theme. It could literally save your life. I’m grateful to the BHF for funding the genetic testing that diagnosed me and my family, and for their ongoing support.”

Professor Steve Humphries, a BHF-funded researcher, has identified many of the common mutations in the three genes where inherited defects cause FH. Thanks to his research, a blood test was developed that can be used to detect the condition.

FH prevents your liver from removing enough bad cholesterol, also known as LDL cholesterol, from your blood. If left untreated, the condition can reduce a carrier’s life expectancy by up to 30 years.

Christopher Allen, a Senior Cardiac Nurse at the British Heart Foundation, said:

“FH is sometimes referred to as a hidden killer, as most people living with the disease don’t know that they have it. If you have a family history of heart attacks at an early age, then it may be a sign that you have exceptionally high cholesterol and it is vitally important that you make an appointment with your GP as you could have FH. The sooner it is identified in you and your loved ones, the less chance you have of having a potentially deadly heart attack.”

NHS plans to improve diagnosis

Speaking about the NHS’ commitment to improving diagnosis of FH, Professor Huon Gray, National Clinical Director for Heart Disease, NHS England said:

“We are delighted that genetic testing for familial high cholesterol has proved so effective, lives will certainly be saved as a consequence as most individuals are unaware they have this condition. As set out in the NHS Long Term Plan, over the next five years thousands more people across England – and their families – will be offered genetic testing for this condition to help reduce the risk of future disease.”