Optimising Lipid Management and Familial Hypercholesterolaemia (FH)

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

There are two types of FH:

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

Homozygous FH: This is where the individual inherits a 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 250 people may have FH in the UK but less than 10% of these people have been diagnosed.  This means up to 260,000 people may be living with this condition, it is estimated that 56,000 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.
  • Without treatment, affected men will frequently 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.
  • 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.

The importance of early diagnosis: how to identify patients with FH for diagnosis and referral

Aim of the FH project in the North East and Cumbria

The overall aim of the Academic Health Science Network for the North East and North Cumbria, in collaboration with Clinical Commissioning Groups, GP Practices, AMGEN and SANOFI is to implement targeted FH risk assessment and medication review at Primary Care level.  Further aims include:

  • Reducing the excess coronary heart disease risk and premature mortality associated with FH by developing a pathway covering the following key areas:
    • Identify patients at high-risk
    • Evaluate medications
    • Education and treatment
  • Increasing the utilisation of the genetic screening programme across the AHSN footprint through better patient identification
  • Improving the patient experience by providing more specialist care within primary care and ensuring better utilisation and more appropriate referrals to the specialist service within secondary care
  • Further developing an FH service model which can be scaled up nationally

Delivery across the North East and Cumbria

A steering group has been established to deliver the project within the North East and Cumbria, the group includes specialist doctors, nurses, health economist, research and project managers

A software tool will be used to identify patients who are at high risk of having FH. A pathway has been designed specifically for those patients to ensure they receive the appropriate management and genetic screening where necessary.  Please check back regularly as the pathway is subject to change.

FH Pathway

If a patient is diagnosed as having FH, there is an opportunity for the specialist nurses to then cascade the test which means that their families can be genetically screened to determine if they also have FH.

A video has been developed in conjunction with The University of Nottingham to share case findings on FH.

Watch video





The following documents have been produced in order to assist with those working in FH:

Improving the identification of patients with familial hypercholesterolaemia in primary care

Patient Invitation Letter

Recording Family History

Expectations from GP

Patient Evaluation Form

Patient Consent Form

Patient Information Sheet v2

FH Project Patient Assessment Worksheet V5


For more information about the AHSN NENC FH Programme contact [email protected]