East Genomics

Familial Hypercholesterolemia (FH)

Developing testing pathways, a case finding approach and supporting education, training in Primary Care.

What is FH?

Familial Hypercholesteraemia (FH) is an inherited condition that is passed down through families. It's caused by a change in one or more genes, making the liver less able to remove excess 'bad' cholesterol, known as LDL. Early identification can lead to treatment and management that greatly reduces the chances of developing heart disease.

Around 270,000 people in the UK are estimated to have FH, but many don’t know they do. Early identification and management can greatly reduce the risk of heart disease.

What are we doing?

We are working to support Primary Care to identify patients at high risk of FH, to enable earlier treatment and management .

We are doing this through the development of Primary Care pathways for FH, establishing a primary care case finding approach, and provide education, training and support to primary care.

Who are we working with?

  • Eastern AHSN
  • Norfolk and Norwich University Hospitals NHS Trust
  • PRIMIS (University of Nottingham)
  • Integatred Care Boards (IBCs)
  • Primary Care

Progress and next step

  • FH Information Zone (resoruce for healthcare staff) published on the East Genomics website.
  • Specialist FH Nurse at NNUH has led development of search tool/case finding approach including integration of FAMCAT 2 into ECLIPSE Live.
  • FH Hub to go live in Q1 2023/24.

Meet our team

Information for patients
Information for healthcare staff