Familial Hypercholesterolaemia

The HI NENC Cardiovascular Disease Prevention Programme includes Familial Hypercholesterolaemia (FH), identifying people with this genetic condition and optimising their treatment to give patients the best chance of avoiding cardiac events.

HI NENC has developed resources to support practices across the region to search their patients records for historic blood lipid levels to identify those at risk of FH. Relevant patients will be referred for genetic testing, after genetic counselling, to confirm or refute the diagnosis of FH and subsequent treatment administered to reduce the risk of possible cardiac events.

We have developed a Standard Operating Procedure (SOP) and a Handbook for use by primary care staff. These have been developed collaboratively with clinicians and the CDRC team.

View SOP

View Handbook

What is FH?

FH is a common genetic condition, affecting as many as one in 250 people, and if a parent has FH, there is a 1 in 2 chance that each of their children will have FH too. The condition causes high levels of cholesterol, increasing a person’s risk of developing cardiovascular disease or having a heart attack at a much younger age.

In the North East and North Cumbria, only 12% of cases of FH are known (figure correct at time of writing, September 2024), meaning there are a lot of people with the condition who don’t know they have it. However, if this risk is known about, a person’s risk can be reduced with appropriate lifestyle modification and the availability of new treatments.

Patients with a high likelihood of FH can be identified through cholesterol testing and reviewing family history of cardiovascular disease. Finding people with FH before they present with a heart attack or stroke can save lives and improve quality of life.

The NHS Long Term Plan has a target to identify 25% of people with FH by 2025.

There are regional Northern England Evaluation and Lipid Intensification (NEELI) Guidelines which include information across the whole of the lipid pathway, including FH. View the guidelines here.

Resources to identify people with FH

Using the searches provided by CDRC it is possible to identify potential patients with possible FH at GP practices.

CDRC digital resources are designed and developed in the North East and North Cumbria by local clinicians. Their work is supported by NHS England, North of England Commissioning Support (NECS) and HI NENC.

All CDRC resources are available at no cost to Primary Care users and can be accessed via SystmOne or EMIS. For information on how to access the resources from your preferred clinical system, please visit the CDRC website.

FH courses

A massive open online course (MOOC) has been developed for healthcare professionals who are involved in identification and management of patients with FH and their families. The course would appeal to people working in GP practices, cardiac services, lipid services, and genetic counselling roles.

The course covers the following topics:

  • What is FH and the background to service development
  • Starting the genomic conversation
  • Family history taking and family tree drawing as an assessment tool for FH
  • Principles of consent and documentation for genomic testing
  • Providing the results of a genetic test and providing patient support
  • Understanding cascade testing and appreciating professional roles in FH

Access the free course here

FH projects

Educating healthcare professionals about familial hypercholesterolaemia (FH)

Health Innovation Network funded a five-week course led by HI NENC. Developed with Northumbria University and FH experts, the course trained 118 healthcare professionals to identify and manage the condition. In response to continued demand, the Massive Open Online Course (MOOC) has been created to extend training nationwide. Access the course and learn more in the case study

Improving access to FH Genetic Testing: GENinCode

HI NENC, in partnership with GENinCode, piloted a cost-effective genetic testing approach that provided faster reporting, potentially improving identification rates and supporting better FH management and prevention. Read the case study

Familial Hypercholesterolaemia (FH) Programme – Pilot Project

The FH element of the CVD Prevention Programme was originally a pilot project focusing on a number of GP practices in the region. This work was so successful that it became a national programme (2020 – 2023).  Download a case study about the impact of this pilot.

FH pathway review

HI NENC is currently undertaking a review of the FH pathway across NENC to address the variation in identification across the region. We will be working with colleagues from Primary care, Secondary care and the Genetics service to ensure a full and complete patient journey is captured accurately.

Partnership working

Heart UK: HI NENC works closely with this charity promoting their resources. Their CEO is a member of HI NENC CVD Strategy Group.

NEQOS: North East Quality Observatory Service provide all our measurement and data services.

Pharma: Amgen and Sanofi have seconded a member of staff each to support HI NENC’s FH project work.

Genomic Medicine Service Alliance: HI NENC works closely with our regional Genomic Medicine Service Alliance (GMSA) who are currently piloting work to examine strategies to increase identification of patients with FH in primary care. To find out more about their work visit their website.

GENinCode: An overview of the joint work can be found in this case study

For more information contact Kate Mackay CVD Programme Lead.

CVD Lunch and Learn: The importance and understanding of Familial Hypercholesterolaemia (FH)

In May 2024 Health Innovation NENC facilitated a lunch and learn session focusing on the importance and understanding of Familial Hypercholesterolaemia (FH), suitable for all primary and secondary care clinicians. The session explored: what is FH; why it is important to identify and treat patients; the importance of genetic testing; and how care can be optimised to help patients to manage their condition and live a healthy life. Watch back the recording below.

What is FH?

Most people have heard of cholesterol, but some people can have high cholesterol through a faulty gene in their bodies which can be passed onto their children. This genetic condition is called familial hypercholesterolaemia or FH. The aim of this short, two-minute video is to demystify genetics for patients, and to encourage those diagnosed with FH to talk to other family members, encouraging them to get tested. The video was produced in collaboration between HEART UK, and two of their patient ambassadors with the Northern Genetics Service and HI NENC.

Family Videos – Heart UK

A suite of short films featuring families that are living with Familial Hypercholesterolaemia (FH) have been developed to raise awareness of the condition.

The three films, funded by Northern England Clinical Networks and supported by Heart UK, offer an insight into what FH is and what it’s like to live with from the perspective of the Middleton and Ryder families.

We’d like to acknowledge the work by Susan Musson, FH Nurse Specialist, Northern Genetics Service at Newcastle Upon Tyne Hospitals NHS FT and Dr Neil Hopper, Consultant Paediatrician, South Tyneside and Sunderland NHS FT.

The films are available to watch below and further information can be found on Heart UK’s website at https://www.heartuk.org.uk/cholesterol/being-a-parent

What is FH?

 

Healthy Living with FH

 

Living Life to the Max

Living with FH – Leanne’s story

Leanne has been diagnosed with Familial Hypercholesterolaemia which has also led to several of her family members being diagnosed with FH. Hear her story and how she manages her genetic condition.

Familial Hypercholesterolaemia

Familial Hypercholesterolaemia (FH) is a condition that affects around 150,000 people in England. It is passed on genetically and can cause early heart attacks and death. Once identified it is controlled by treating high levels of cholesterol in a patient’s blood.

FH is an inherited condition which leads to exceptionally high cholesterol levels, often 2 – 4 times those of the general population.

There are two types of FH:

Heterozygous FH (HeFH): This is where the individual inherits a faulty gene from only one parent.

Homozygous FH (HoFH): This is where the individual inherits the same faulty gene from both parents. Individuals suffering from this type of FH tend to have very high cholesterol levels, in the region of 10 – 20mmol/l (or higher) and are at very high risk of suffering a cardiovascular event. However, the numbers affected with this type of FH are very small, in the region of 60 nationally (one in a million).

Overall, it is estimated that one in 270 people may have FH in the UK but less than 10% of these people have been diagnosed.  This means just over 240,000 people may be living with this condition, and it is estimated over 51,000 children in the UK have FH; only 600 of these are known.

FH is passed from generation to generation through a ‘faulty’ or ‘altered’ gene. This means that brothers and sisters or children of someone with FH have a 50% chance of having the condition. If left untreated it can lead to early heart disease, but early diagnosis and effective treatment reduces the risk of heart disease and can help ensure that people with FH have a normal life expectancy.

Why identify FH patients?

  • The NICE FH Guideline (CG71) recommends genetic testing of relatives of individuals known to have FH.  This is the most effective strategy for early identification, leading to effective treatment through diet, lifestyle interventions and cholesterol-lowering drugs.
  • NHS LTP has a target of identifying 25% of people with FH by 2025.
  • The Primary Care Network (PCN) DES contract 2022/23 includes referral for assessment of FH.
  • Without treatment, men with HeFH can develop symptoms of coronary heart disease before 40 years, and half will be symptomatic by the age of 50 years. In women, a similar proportion are symptomatic by 60 years of age.
  • With early intervention and careful follow up to ensure concordance with treatment, the excess coronary heart disease risk and premature mortality associated with FH can be effectively reduced.