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 (where an individual inherits a faulty gene from only one parent) and homozygous (where the individual inherits a faulty gene from both parents). 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. With early intervention and careful follow up, the excess coronary heart disease risk and premature mortality associated with FH can be effectively reduced.
Through improved detection, pathway improvement and education support, the project endeavours to support improvements in the number of patients identified and treated for FH through genetic diagnosis in primary care. This includes expanded access to genetic testing for FH via screening of electronic records and piloting a process of child-parent screening to enable early diagnosis and treatment for those at genetic risk of sudden cardiac death as per NICE clinical guidelines (CG71) and Quality Standards (QS41).
National Guidance, Supporting Policies and Contractual Frameworks
National Guidance -
The NICE guideline on Familial hypercholesterolaemia: identification and management covers identifying and managing familial hypercholesterolaemia (FH) and aims to help identify people at increased risk of coronary heart disease as a result of having FH.
Contractual Frameworks -
The NHS Long Term Plan commits to increasing the diagnosis of familial hypercholesterolaemia from 7% to 25% by 2024/25. Early detection and genetic diagnosis to enable early intervention will reduce risk and enable better outcomes for FH patients.
You can read more about FH inclusion in the PCN Network Contracted DES and the Investment and Impact Fund here.
Patient Case Finding
There are various tools that will enable PCNs and practices to find patients at higher risk of Familial Hypercholesterolaemia (FH).
Part of our work is to support use of tools and risk stratification processes in your practice. Below are examples of tools that you may wish to explore.
The FAMCAT2 tool is designed to support the identification of patients with familial hypercholesterolaemia (FH) using the FAMCAT2 algorithm (among other available methods) to rank patients according to likelihood of disease presence.
This excel-based tool enables localities to prioritise patient reviews based on capacity both in practice and the wider system (referrals to FH specialist service and DNA testing). The tool also helps GP practices to review lipid management among patients with FH. You can read more about FAMCAT2 here.
FAMCAT2 was piloted across Hampshire and the Isle of Wight from December 2021 to June 2023 and Health Innovation Wessex published a case study with comprehensive details on the pilot including outcomes in July 2024. The case study can be accessed here.
2. The UCLP Proactive care Framework
UCLP Frameworks are currently widely used across primary care and form part of the AHSN Network approach to Blood Pressure Optimisation.
Search tools are downloadable and include options for workforce deployment to make the most of available HCP resource.
You can review the tool in more detail here.
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