Familial Hypercholesterolaemia (FH)

Introduction to project

We have 4 FH workstreams:

  1. National Transformation Project – Embedding implementation of Familial Hypercholesterolemia services in primary care
  2. Regional Transformation Project – Oxfordshire
  3. Nursing and midwifery survey
  4. Paediatric needs assessment survey

The purpose of the projects has been to increase access to genetic testing for FH patients and their families who may benefit from it, as well as increase access to education tools for health care professionals. 

What is the condition?  

Familial Hypercholesterolaemia (FH) is a genetic condition that causes high cholesterol and coronary heart disease, often resulting in premature Coronary Heart Disease (CHD), Myocardial Infarction (MI) and early mortality. Patients with FH will have abnormally high total cholesterol from birth. FH is a relatively common genetic disorder and the estimated prevalence is 1 in 250, suggesting 240,000 affected individuals in Britain. The condition is massively under diagnosed however, early treatment with statins reduces the CHD risk and therefore reduces the financial burden of cardiovascular events on health and social care as well as reducing premature mortality. 

What are we doing? 

Nationally, Central and South GMSA have 2 flagships services within its geography; Wessex and the West Midlands. As a result of this experience and expertise, we were asked to lead the national FH transformation project. This was in the form of collaborative oversight of 7 regional GMSA transformation projects. This collaboration was very successful, with new pathways being implemented or expanded across England, improving and growing access to genetic testing to patients previously underserved.

Regionally, Central and South GMSA identified and addressed a gap in service provision within Oxfordshire. The West Midlands Familial Hypercholesterolemia Service (WMFHS) have provided an FH service to a proportion of the Buckinghamshire, Oxfordshire, and Berkshire West Integrated Care System (BOB ICS) population, specifically to patients within the Oxfordshire geography. This successful project will now transition into routine care, continuing  to be provided by the WMFHS as of April 2023 for a 12-month period, to enable a phased handover to the BOB ICS.

In Nursing and midwifery, an FH nursing and midwifery survey was designed to identify the level of knowledge health care professionals felt they had about the disease as well as how to access FH services, and to highlight any gaps in knowledge. This enabled us to signpost health care professionals to FH educational resources and raise awareness that these are accessible to all nurses in the CAS GMSA geography. The aim was for this to maximise the potential for informed and meaningful discussions with patients regarding FH, the referral process and ultimately earlier identification, and diagnosis.

Paediatric needs assessment: 

56,000 children within the UK may have FH. For those with FH, the risk of death from Cardiovascular Disease (CVD) is up to 80 times higher between the ages of 20-39, compared with the general population. However, if FH is identified early and statin therapy and interventions to manage risk factors are commenced, the CVD risk for those with FH could potentially be reduced to a comparable level to the general population. This project undertook a needs assessment in the CAS GMSA region to;

  • Establish a baseline of the number of children and young people with FH who are known to lipid services in the Central and South region.
  • Identify current paediatric FH services in the Central and South region.
  • Gather intelligence on key issues for services regarding meeting the health needs of children and young people with FH in the Central and South region

What training is available?

Management of Familial Hypercholesterolaemia in General Practice

Where can I find out more?






FaHRAS – Primary Care for GPs – FaHRAS

Who can I contact?