Inherited high cholesterol: a call for action

Many thousands of people in the UK don’t know they have a potentially fatal cholesterol disorder – now the NHS has received a clear signal that this must change.

8 Dec 2017, by Professor Sir Nilesh Samani

Woman having blood taken


Over a quarter of a million people in the UK [1] – one in 250 of us – are thought to have familial hypercholesterolaemia (FH), an inherited condition that raises blood cholesterol levels and dramatically increases the risk of heart attack or stroke.

Although preventive treatment with statins and newer therapies such as PCSK9 inhibitors can substantially reduce this risk, 85% of people with FH are undiagnosed [2]. Alarmingly, just 600 out of 56,000 children [3] thought to have the condition have received a formal diagnosis.

And as parents, siblings and children of those with FH possess a 50% chance of having the condition, there’s an urgent need for routine genetic testing to be extended to family members so we can identify those affected.

Action to address these challenges could prevent thousands of cardiac events and significantly reduce premature deaths.

New guidance

So the BHF greatly welcomes the updated NICE FH guideline, launched on Thursday 2 November 2017.

The recommendations, an update of the 2008 guideline, call on GPs to search primary care records to find patients with signs of the condition – specifically those aged under 30 with a total cholesterol level greater than 7.5 mmol/l, or 9.0 mmol/l if they are aged 30 or over.

It reiterates the importance of genetic testing to confirm a diagnosis – and for their family members to receive cascade testing. This systematic approach is an important opportunity for personalised preventative medicine, allowing us to target testing and treatment to those most at risk. The Chief Medical Officer’s annual report, published earlier this year, held up FH services as an exemplar of how genetic testing is being used to drive earlier diagnosis, personalised risk assessment and effective prevention. 

Unmet need

We know that in the years immediately following the 2008 guidance resources for genetic and cascade testing were not provided, leaving many people undiagnosed, untreated and at risk. Today, only Wales and Northern Ireland currently provide systematic FH services.

Since BHF Professor Steve Humphries demonstrated in the 1990s that DNA testing could find which members of affected families also have the condition, the BHF has advocated cascade testing of relatives and has so far invested over £7 million into FH research and implementation.

This includes implementation of this research into clinical practice, funding 25 FH nurses across 12 UK sites since 2014, following a successful co-funded cascade testing service in Wales. This programme has diagnosed almost 2,000 new cases as of October 2017 in England and Scotland, while the Wales programme has identified more than 900.

These programmes are a clear demonstration of how an evidence-led approach can benefit local populations in today’s NHS. We encourage commissioners across the NHS to read the economic analysis and programme evaluation [PDF] for this work, and consider how cascade testing services for FH could be strengthened in their area.

With so many people lacking a diagnosis, there’s a clear need for action.

Paediatric cases

The guideline also highlights the urgency of identifying and treating children with FH. Children that have two parents with FH, or clinical signs like xanthomata (lipid deposits on the skin), should have LDL cholesterol measured before the age of five, or at the earliest possible time after that. The guideline recommends that children with one affected parent should be tested before the age of 10. 

NICE’s update provides a chance to reinvigorate efforts to alleviate the burden of FH on patients and the health service. The BHF is working with NICE, Public Health England, NHS England and HEART UK to develop resources that can help NHS organisations put these recommendations into practice.

Together, this set of guidance provides a clear, evidence-based approach to managing FH that can save lives.

The challenge is how the health system can respond and deliver on this clear call for action.

Professor Sir Nilesh Samani is Medical Director at the BHF.



1. BHF (2017) CVD Statistics Factsheet - UK

2. Royal College of Physicians (2010) Familial Hypercholesterolaemia Audit

3. Royal College of Physicians (2017) FH Paediatric Register Newsletter