FH is a global health problem- FH Awareness Day 24th September

HEART UK participated with FH Europe in an international coalition convened by the US FH Foundation in California and the World Heart Federation to re-examine and update of key recommendations issued by the World Health Organization (WHO) in their report on Familial Hypercholesterolemia in 1998. 

Sadly, more than 20 years on, few of the recommendations have been systematically implemented.  As a result of the collaboration with global stakeholders, we published a Global Call to Action on FH.  The publication sets out 9 key recommendations.  So, let’s take a look at where the UK are at against these recommendations:    

1.     Awareness

Recommendation: Increase awareness of FH.

In the UK awareness remains low about the condition.  The prevalence is around 1 in 250 people who have the condition.  This means there are around 250,000 people in the UK who have the condition, but less than 10% are identified.  HEART UK work hard to raise awareness throughout the UK to significantly increase this number of identified cases and to keep families together.

2.     Advocacy

Recommendation: There should be an advocacy organisation in each country.

HEART UK is very active in this space.  We have been instrumental in FH being included in the NHS Health Check programme, the new primary care audit programme called CVDPrevent, the new genetic system and also with the published objective in the NHS Long Term Plan to increase the number of identified cases to 25% by 2024.  HEART UK are holding NHS England to account on this target.  We work with all key stakeholders with the aim to ensuring all elements through from awareness and education to optimal treatment are imbedded throughout the whole system.   This includes the HEART UK’s Medical, Scientific and Research Committee (MS&R) contributing to all consultations around the subject matter, including any health technology appraisals in each country across the UK and also genetic discrimination, in particular around the armed forces. 

Screening, Testing, and Diagnosis

Recommendation: Screening, testing and diagnosis should be performed according to country specific guidelines.  This should be throughout the life course, beginning in childhood. 

Screening, testing and diagnosis is patch across the UK.  There are published guidelines on treating FH and HEART UK’s MS&R have published Statements of Care on treatment and management for particular groups, including the extreme form of FH (known has homozygous FH (HoFH) – when someone inherits two defective genes, one from each parent).  However, the application of guidelines remain patchy across the country.
HEART UK has been championing child-parent screening for FH.  Whilst children are being identified currently, the first person in the family to be identified is usually an adult at an average age of 45.  Introducing routine systematic child-parent screening as a complementary approach to parent-child testing, would mean the average age of the first person being identified in some families is potentially 18 months old.  This would also lead to finding more families more quickly, would stop the development of early heart disease in these FH cases, decrease the number of early heart attacks and even death – and most of all would stop tearing families apart.  

In England there is a new genetic system being introduced.  The system is working with the devolved nations too.  FH testing is included in this, which is a great step forward, but we still don’t have routine systematic child-parent screening.  If we are to achieve the 25% published identification of FH cases by 2024, this approach needs to be introduced, this will not be achieved otherwise.  More to the point, it is doing a disservice to families leaving them undiagnosed and untreated and at huge risk. 

Whilst writing this blog, we heard that the NHS have agreed to pilot a programme to screen children for FH in three areas of England.  There is much work to do to in order to get this moving, but we are absolutely delighted.  We will work closely with the system to do everything we can to make sure this actually happens.

3.     Treatment

Recommendation: Treatment for FH should be person-centered and available.  Ideally, treatment should begin in childhood and continue over the life course.
There are guidelines around this across the UK, including treating FH by the age of 10.  Once again, it is the application of this that is so important and that is patchy.

4.     Severe and Homozygous FH

Recommendation: Create, as a special case, separate guidelines for severe and homozygous FH.

HEART UK’s MS&R have published guidelines as mentioned above, although there are sometimes barriers with access to treatment.

5.     Family-Based Care

Recommendation: Develop a family-based care plan across primary and secondary care screening of family members.

Each clinic decides their own approach, some do have a family based approach including both secondary and primary care. 

6.     Registries

Recommendation: Fund national and international FH registries.

HEART UK believe there should be one place for FH data in the UK.  There is one system used for the whole of Wales and this is also used in more than half of England.  Northern Ireland are implementing the same system.   However, Scotland use their own genetic database for all genetic conditions.  There is more work to do on this to make it a truly ‘national’ registry and it needs to be centrally operated in order for the system to work seamlessly.  We are working with the key stakeholders to support this to happen.  Without a registry we will not know where we are with the reaching that 25% target.

7.     Research

Recommendation: Fund research into the genetic and environmental factors influencing the expression of inherited lipid disorders.

There are many papers published from the UK on this subject matter.  Of course, a general approach is to always say more research is needed, and it is, if we are to find all the FH cases across the country.  What we also need to understand is how many deaths are caused from FH across all ages.  Even though there is a code for FH that can be used on death certificates, it is usually ‘heart attack’ that is registered as the cause.

8.     Cost/Value

Recommendation: Understand value in FH care, both for the family and for society, including gained years of life expectancy, gained years of life without disability, and lost productivity.

Economics have been published around FH in the UK.  However, they tend to focus on the cost and value to the health system, rather than the family.  Of course the cost to a family of a family member having an early heart attack or dying suddenly cannot be put into pounds, shillings and pence.  It might wake up the whole system it we could do this! 

So in summary, in the UK there has been a lot done but there is still a lot to do if we are to find all the people who have FH.  We have definitely moved the needle on this, but we need to finish sewing the garment, get this done and keep all the families together. 

Jules Payne, Chief Executive, HEART UK