Milestone reached as 3,000 cases of inherited high cholesterol detected by BHF-funded programmes

BHF-funded work to detect familial hypercholesterolaemia has led to thousands of new diagnoses in England and Scotland. 

8 March 2019, by Siobhan Chan

Patient consultation 

Three thousand people in England and Scotland have now received a diagnosis of familial hypercholesterolaemia (FH), an inherited condition that significantly increases the risk of premature coronary heart disease, thanks to a BHF-funded programme. 

A diagnosis of FH means that patients can access treatments to lower their risk of having a heart attack. It also means their families can access cascade testing, which is where immediate relatives undergo genetic tests to find out if they also have the condition. 

Around one in 250 people in the UK has FH, but detection rates are low. It is estimated that if everyone with FH in the UK was identified and effectively treated, 3,200 heart attacks and 380 deaths caused by heart attacks could be prevented each year.1

Since 2014, the BHF has funded specialist nurses to work within 12 cascade testing services across England and Scotland. It has also co-funded a cascade testing service in Wales, which by February 2019 had identified an additional 1,154 cases. 

Better detection of FH

Public Health England and NHS England recently announced an ambition to increase the detection rate from an estimated 7% to 25% in the next five years.

Only around a third of the population in England is covered by specialist services that offer genetic diagnosis and specialist management of FH.2

The BHF is urging commissioners to review service provision in their areas and make the case for increased investment into cascade testing for FH, which is highly cost effective.3

Joanne Whitmore, Clinical Lead - Implementation Projects at the BHF, said: “We are delighted to reach this significant milestone in diagnosing people with FH – a condition which all too often flies under the radar. While it is great news that we have been able to diagnose so many people, there is still a long way to go.

“Cascade testing saves lives, and it is vital that we now see it rolled out more widely,” she added. 


FH resource for commissioners

The BHF has worked with partners Public Health England, NHS England, NICE and HEART-UK to develop a guide to support NHS commissioners and providers to implement recommendations from NICE's updated FH guidance.


Access the guide now

Cascade effect

Alan Leaning was diagnosed with FH after he had a heart attack at his nephew’s birthday party at the age of 31. Alan, an aircraft engineer from Luton, has a family history of early heart attacks. Following his diagnosis, two of his children tested positive for the condition and are now being treated.

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.

“I’m grateful to the BHF for funding the genetic testing that diagnosed me and my family, and for their ongoing support.”


1. BHF analysis using data from Humphries, S. E., et al. "Coronary heart disease mortality in treated familial hypercholesterolaemia: Update of the UK Simon Broome FH register." Atherosclerosis 274 (2018): 41-46.

2. Public Health England (2018) Improving the diagnosis and treatment of familial hypercholesterolaemia https://publichealthmatters.blog.gov.uk/2018/08/14/improving-the-diagnosis-and-treatment-of-familial-hypercholesterolaemia

3. S Humphries et al. Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK, European Heart Journal, Volume 38, Issue 23, 14 June 2017, Pages 1832–1839, https://doi.org/10.1093/eurheartj/ehx111