BHF Funding FH cascade testing services 2014

We have recently closed the a second round of funding to support the setting up of cascade testing services for Familial Hypercholesterolaemia (FH).


The FH business case has been developed to support service providers who are considering setting up a local FH cascade testing service. This tool and others were discussed at the BHF Familial Hypercholesterolaemia conference on November 24th 2014 at the King's Fund in London, review the presentation slides from the conference. 

What is Familial Hypercholesterolaemia?

Familial Hypercholesterolaemia (FH) is a genetic condition which results in exceptionally high cholesterol levels. This in turn increases the risk of developing cardiovascular disease (heart attack or stroke). Because the high cholesterol levels occur at a very young age, it is not unusual for a person with FH to have a heart attack or stroke as early as their 20s or 30s.

Incidence rates of FH

It was previously thought the incidence rate of FH was 1 in 500, but the latest data suggests it could be as high as 1 in 250.

Current rate of diagnosis

Less than 15% of the at least 120,000 people with FH in the UK are currently diagnosed.

Impact of FH on morbidity

Left untreated 50% of men develop cardiovascular disease by the age of 50 years and 30% of women by the age of 60 years.

Adoption of NICE Guidelines 2008

NICE published guidelines in 2008 recommending that potential FH patients should be identified in Primary Care and referred to secondary care for further investigations. All FH patients should be offered a DNA test to confirm their diagnosis, and that once a diagnosis of FH is confirmed in index cases, cascade testing based on DNA should be offered to immediate family members including children. However, a National audit led by BHF Professor Steve Humphries in 2010 showed that, in the main, the NICE guideline has not been adopted, the resources for the genetic and cascade testing had not been provided, and people with FH still remain undiagnosed, untreated and therefore at high risk of developing premature CVD.

BHF investment ‘from bench to bedside’

Through the 1980s and 90s, BHF Professor Steve Humphries collected DNA samples from hundreds of FH patients and discovered the genetic mutations that are causing their disease. Vitally, he proved that DNA testing could find which members of affected families also have the condition. To date BHF have invested over £7million in research in to FH.

In 2010 BHF invested £450K over a three year period in developing the Welsh FH cascade testing model which is now well established (over 1400 index cases with DNA testing completed).

In spring 2014, BHF invested a further £1m in setting up cascade testing services across England and Scotland (8 NHS Trusts received funding for FH nurses). BHF also supports a post within the Welsh FH service to provide support for new FH services in using the PASS software (bespoke software to manage FH assessment).

In addition, BHF funds a national register of children with FH, directed by Prof Humphries to
  • monitor the effects of current and new treatments on growth and puberty and
  • provide comparative audit data
  • provide anonymised data for valid research in the field.