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Improving the diagnosis and treatment of Familial hypercholesterolaemia

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What is FH and why is it important?

Familial hypercholesterolaemia (FH) is a common genetic condition that causes high levels of cholesterol in the blood, resulting in an increased risk of heart disease at an early age.

FH affects one in every 250 people. That means that over 200,000 people in England (including children) have FH, though the vast majority are undiagnosed. Without a diagnosis, affected individuals are unaware of their high risk status and so do not receive potentially life-saving advice and cholesterol-lowering treatment.

Identifying people with FH at an early age is vital; treatment to lower cholesterol can give people with FH the same life expectancy as the general population. Without this treatment 50% of men with FH will have a cardiac event by the age of 50, and 30% of women by age 60.

The New FH Implementation Guide

Public Health England (PHE), in collaboration with NICE, NHS England, British Heart Foundation and HEART-UK, has developed a guide to support NHS commissioners and providers to implement the recommendations of the recently updated NICE Guidance on FH.

The Implementation Guide aims to set out practical measures that can be taken to improve the diagnosis and treatment of FH, based on available evidence and expertise.

How can detection and management of FH be improved?

  1. Look at the local provision of specialist services in your area

Access to FH services across the country at present is patchy. Only around a third of the population in England are covered by specialist services that offer genetic diagnosis and specialist management of FH. We are calling on local decision makers and commissioners to look at provision across their region and where FH services are missing, to make the case for investment.

  1. Raise awareness of FH amongst clinicians and the public

Availability of services is just one piece of the puzzle. For people to be offered referral to specialist FH services for genetic counselling and DNA testing, they first need to be recognised as being at risk.

Being aware of the key features of FH, including a family history of heart disease before the age of 60 and/or a very high level of cholesterol in the blood, is crucial for people to be able to recognise their own risk and seek advice if necessary.

  1. Introduce more systematic approaches to case-finding

Many people will have a record of their cholesterol level on their GP records. Systematically searching GP records to identify those with very high cholesterol is one of the cost-effective case-finding methods recommended in the NICE Guidance.

  1. Use the NHS Health Check as an opportunity to identify those at risk

The NHS Health Check offers an excellent opportunity to identify people with FH, and in particular those who might not otherwise have visited their GP. Offering people aged 40 to 74 a cholesterol test as part of the wider assessment, the Health Check guidance recommends that people found to have a blood cholesterol level of 7 or over are referred to their GP for assessment.

Supporting improved outcomes

Joining the dots

The whole healthcare system needs to work together to make sure patients experience a seamless journey from suspecting diagnosis of FH in primary care, to referral for DNA testing, to cascade testing of relatives, and receiving the appropriate preventative treatment and support. Clear pathways should be in place to prevent people from ‘falling through the gaps’ between different provider organisations.

Monitoring and Evaluation

Monitoring progress and evaluating services will be key to ensuring that systems are working well and are improving outcomes for the patients they serve. The Cardiovascular Disease Systems Leadership Forum (CVD SLF) is at present developing national ambitions for the identification and management of FH. This will be a target for the whole community to work towards.

Continued Collaboration

The co-development of the FH Implementation Guide is just a part of wider collaborative efforts to improve identification and management of FH in the UK involving PHE, NHS England, BHF and HEART UK among others, coordinated by NHS England’s FH Steering Group.

What next?

Use the FH Implementation Guide as a way to start conversations about FH in your local area; whether you are commissioners, provider organisations, or front-line staff the guide can support you to put FH on the agenda. Help us to spread good practice by sharing the FH Implementation Guide with colleagues across the health sector.

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1 comment

  1. Comment by Amanda Mary Walsh posted on


    I developed a useful tool for primary care to identify FH and I would be happy to share this with your comms team to support this initiative.
    Contact me interested.
    Best regards
    Amanda Walsh