Familial Hypercholesterolaemia (FH) is a genetic, inherited condition, which can cause extremely high cholesterol levels. Without treatment, it can lead to heart disease at a very young age; people with undetected FH are four times more likely to have a heart attack or stroke than the general population. FH is identified via a cholesterol test to identify patients most at risk, followed by a genetic test to confirm FH. Once confirmed, the risk of heart disease can be dramatically reduced through the commencement of medication to lower cholesterol levels.
FH in the UK population is believed to be approximately 1 in 250, meaning more than 260,000 people in the UK may have FH. Less than 10% of these people have been diagnosed contributing to avoidable heart attacks and premature death. The NHS Long Term Plan outlines a commitment to improve this to at least 25% through better access to the NHS genomics programme. However, with limited access to genetic testing and unprecedented demand in primary care, it is essential to prioritise those most at risk.
The FAMCAT2 Algorithm has been developed by University of Nottingham academics (PRISM) and has high predictive accuracy to identify FH. The algorithm generates a FAMCAT2 probability score for all patients aged 16 years and over with a cholesterol result. Once a score has been established, patients can be ranked in order of their probability of having FH, helping health care systems to prioritise referrals for testing in accordance with capacity at regional genomic testing hubs.
In one scientific paper, it was found that FAMCAT2 required only 23 genetic tests to find one patient with FH, whereas the Simon-Broome methodology needed 102 tests. [ref: Cost-Effectiveness of Screening Algorithms for Familial Hypercholesterolaemia in Primary Care by Matthew Jones, Ralph K. Akyea,Katherine Payne et al https://www.mdpi.com/2075-4426/12/3/330]
PRIMIS is delighted to be leading on the implementation of the FAMCAT2 algorithm across the UK.
The FAMCAT2 Algorithm can be accessed one of three ways:
Advantages of using the FAMCAT2 (click to reveal)
It is evidence based. There have been publications in peer-reviewed journals spanning each iteration of the FAMCAT research.
It is accurate. Based on a retrospective cohort study of over 1 million patients, FAMCAT2 more accurately predicted FH than other case finding methods.
It is cost effective. Research findings conclude that while other methodologies to FH identification have utility, they require more resources to detect fewer or the same number of cases of FH.
It helps prioritise workload and align to the capacity in regional genomic testing hubs.
Early identification and effective treatment of people with FH can help to ensure normal life expectancy.
This project involves the following PRIMIS services:
Explore FAMCAT2 papers and documentation on our publications page:
Applied Health Research Building
University of Nottingham
Nottingham, NG7 2RD
PRIMIS on X (Twitter):