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Case study

Identifying and Treating Patients with Familial Hypercholesterolaemia

AHSN NENC has participated in a 3-year National Familial Hypercholesterolaemia (FH) and Lipids Programme, and has worked with partners including Northern England Clinical Networks, Heart UK, BHF, Northern Genetics Service, secondary care lipid specialists, primary care, pharmacists and patients to support identification of people with undiagnosed FH.

Familial Hypercholesterolaemia (FH) affects 1 in 250 people and is an under-diagnosed genetic condition.

34 million people worldwide are impacted, of which 80% are undiagnosed.

During 2022/2023 the Primary Care Network (PCN) Direct Enhanced Service (DES) included incentives to encourage GP practices to find patients who may have FH.

Supporting Primary Care

A standard operating procedure (SOP) document had been produced to support primary care to identify and refer patients with a possible FH diagnosis. Feedback was sought from those using the document and amendments were made, including updating the SOP with new FH SNOMED codes. It was agreed with the regional Lipid Specialist Advisory Group to use these standardised FH codes when communicating from secondary care to primary care, enabling a more consistent approach to coding within primary care records.

During this time, we worked collaboratively with the Genomics Medicines Service Alliance (GMSA) who were looking at the feasibility of clinical pharmacists undertaking work in FH in primary care. We shared resources, including the SOP and associated templates, and learning.

“Both the projects we participated in with AHSN-NENC became fantastic exemplars of how collaborative working and shared learning can be mutually strengthening, avoid duplication, and drive forward the type of workforce development and innovation that provides significant benefits for the patient.” Dr. Judith Hayward, Honorary Research Fellow, St. George’s University London


What is FH video?

In conjunction with partners, we produced a What is FH? animated video and during this last year there have been 3000+ views. The video has been adopted by Eastern AHSN in conjunction with East GMSA and East GLH who are running an Eclipse Live FH Hub pilot with Norfolk and Norwich University Hospitals FT. They will be replacing NENC logos with their own, but NENC will be acknowledged and thanked.

View the video:

“The What is FH? Video is an engaging tool for patients and the public that breaks down and simplifies a rare genetic disease in a short, effective and snappy video”. Nick Pringle, CVD Programme Lead, Eastern AHSN

AHSN NENC supported appropriate national and international days such as International DNA Day and Jeans for Genes week to increase awareness of FH and highlight supporting resources to healthcare professionals.

Working collaboratively with Yorkshire and Humber AHSN, NENC hosted a FH and lipids workforce workshop examining competencies for working within the FH field. These are currently being tested by Yorkshire and Humber.

Three practices have participated in the child parent screening pilot project which is designed to test children at their one-year immunisation appointment for FH. This enables reverse cascade testing from child to parents.

There has been increased detection of FH in NENC from 10.4% (1.4.2022) to 11.1% (28.2.23). The England identification for FH is 5.8% and for the UK 7.7%.

All the resources mentioned can be found here:

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