As February is Heart Month, our Medical Director, Professor Julia Newton, is raising awareness of how we can keep our hearts healthy and explains the importance of testing for the genetic condition Familial Hypercholesterolaemia (FH).

People with FH are at increased risk of cardiovascular events, yet in England approximately only 7% of these cases are known. Julia urges anyone with family members who have had a heart attack or a stroke at a young age to get tested.

FH is a common condition, affecting as many as one in 250 people, and if a parent has FH, there is a 1 in 2 chance that each of their children will have FH too. If there are people in your family who have had a heart attack or stroke when they were younger than 40, you should think about whether you and your family are predisposed to cardiovascular events and get tested.

Having the gene for FH puts you at increased risk of cardiovascular disease but if its known about, the high cholesterol level that is associated with that increased risk can be treated. And with appropriate lifestyle modification and the availability of new treatments, the risk can be reduced to the same as not having the gene at all. In England only 7% of cases of FH are known, meaning there are a lot of people with FH who don’t know they have it. As a result they are not benefiting from reducing their risk. Finding people with FH before they present with a heart attack or stroke can save lives and improve quality of life.

How can we find more people with FH? There are several ways:

  • Lipid clinics – Healthcare professionals at lipid clinics test people attending with high cholesterol if they have signs that suggest FH (this is great but represents the tip of the iceberg)
  • Patient searches – GP practices can search for risk factors for FH in patient records and explore whether they have features of FH (this can be very labour intensive but yield a lot of unknown people with FH)
  • Cascade Screening – Testing for high cholesterol in children attending for their 1 year immunisations can identify children with FH (when you find a child then one of their parents will have the gene and those in the family with the gene can be identified).

As well as these methods, I’m really excited that the AHSN NENC will soon be starting a pilot project using PocDoc, an innovative smart phone app based on a 5 marker lipid test. The project will identify people who haven’t attended their annual health check in some of our most deprived communities and hopes to overcome barriers to accessing cholesterol testing by offering tests at home and in community locations. With over 10,000 tests for the region, this has the potential to identify many more people at risk of cardiovascular disease, including those with undiagnosed FH.

The evidence to identify and manage FH is good (published in NICE 2008 guidance); we can reduce the risk of events but we can only do that if we know who has the gene. It’s part of the NHS Long Term Plan to find 25% of people with FH but we are still a long way from that target. When there are so many issues facing the health service currently, its vital that we prevent events in those where the evidence is strong that their risk is modifiable.

If you, your family, or patients are living with FH, there is a suite of animations and films which help to demystify the condition. Watch our short animation which was produced by the AHSN NENC, working in collaboration with the Northern Genetics Service and Heart UK, and videos about families living with FH, which were produced by the Clinical Networks, working in collaboration with the Northern Genetics Service and Heart UK.

For more information about this work, sign up to receive our newsletter.