Transformation Projects

Familial Hypercholesterolaemia (FH)

NT GMSA Education and Training and Service Development to increase FH detection

Familial Hypercholesterolaemia (FH)

Project Background

Familial Hypercholesterolaemia (FH) is the most common monogenic autosomal dominant disease, with an estimated prevalence of 1 in 250 people. FH impairs the livers ability to remove excess LDL Cholesterol from the blood. Lifelong exposure to elevated LDL cholesterol greatly increases the incidence of premature cardiovascular disease (CVD) in FH individuals. Without treatment 50% of men with FH will have a heart attack before their 50th birthday and 30% of women before their 60th.

Early diagnosis and adoption of healthy lifestyle behaviours and simple treatment, including: statins, low fat diet, regular exercise and non-smoking, can reduce the risk of CVD to the normal population level. However, diagnosis of FH remains low as FH is largely asymptomatic. There is currently no national screening programme so diagnosis commonly only occurs if an individual:

  • Has an unexplained elevated LDL cholesterol blood test.
  • Following a premature heart attack or even sudden death.

The availability of FH genetic testing has improved our ability to diagnose individuals with high cholesterol and cascade genetic test 1st degree relatives. This has been shown to be a cost-effective means of identifying affected family members.

Currently only ~8% of FH individuals have been diagnosed in England. This highlights the need to increase diagnosis and reduce the incidence of preventable CVD in this high risk group. Identifying index cases to offer FH genetic testing remains the greatest issue for increasing FH diagnosis.

NT GMSA is involved in national and regional clinical and education projects to support service development and the education and training of healthcare professionals to increase FH detection and diagnosis.

Project Overview

Project Aim – FH Pilot in Primary Care

NT GMSA has been working with UCLPartners to pilot FH screening in primary care as a method of increasing FH detection. The NT GMSA FH Project aims to pilot the UCLPartners proactive care framework for FH in primary care. The Framework utilises primary care records to identify individuals at high risk of having FH. The project then additionally pilots the offering of genetic counselling and testing in the primary care setting. This process would usually occur in secondary care and thus speeds up the pathway. Positive FH individual’s family members will then also be offered cascade FH genetic testing.


Project Aim – FH National Education and Training (E&T) Transformation Project (co-led with NEY GMSA)

The national FH E&T transformation project aims to increase detection of FH by supporting the mainstreaming of FH screening and testing into primary care. The project will support healthcare professionals to have the knowledge and skills to embed FH screening and testing into their standard practice, safely and effectively. The project will develop educational tools and resources including: FH competencies for Pharmacists, FH Clinical Pathway Initiative, FH online modules and Massive Open Online Courses (MOOC), FH 1 day workshops in screening and genetic counselling.


Key deliverables / timelines

Increase the number of lipid nurses within each GMSA region

Increase number of healthcare professionals in general practices who have undertaken at least one FH education training module

Increase in the number of eligible proband/index FH cases referred for test per region

Increase in the number of eligible first degree relatives of FH cases referred for test per region

Increase in number of definite molecularly confirmed FH cases per region


Impact for patients

These projects aim to increase detection of individuals with FH.

Individuals will be offered FH genetic testing, treatment and advice to reduce their risk of premature CVD.

Positive FH family members will be able to access FH cascade testing.

Progress to Date

  • Screening in the FH pilot is ongoing.
  • FH 1 day workshop developed. More dates available – (website/email for interest)
  • RCGP FH module freely available to all healthcare professionals.
  • HEE GEP – FH website live cataloguing all available FH resources

Key Contacts

Corinne Trim –

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