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Preventing early heart disease in high-risk patients

Use of new software developed with NIHR funding is identifying more patients at high risk of early heart disease and heart attacks. Earlier diagnosis and treatment are saving lives and shaping healthcare policy.

Published: 29 February 2024

The silent risk of early heart disease

High blood cholesterol is a key risk factor for heart disease and heart attacks. Although high cholesterol is common, 1 in 250 people in the UK have a genetic condition linked to early heart disease.

The condition, known as familial hypercholesterolaemia, causes dangerously high cholesterol levels from birth. Without treatment, around 50% of men and 30% of women will develop heart disease by the age of 55.

Early diagnosis and treatment can be lifesaving. However, as fewer than 10% of people have been diagnosed and treated, more than 200,000 people remain at risk from premature heart disease.

Supported by an NIHR award of £520,000, researchers developed new software to identify more people in primary care at high risk of familial hypercholesterolaemia.

The familial hypercholesterolaemia case-ascertainment tool (FAMCAT) software was designed to automatically search patients’ medical records. It analyses their cholesterol and triglyceride (a type of fat in the blood) levels, other causes of raised cholesterol and family history to give patients a risk score. People at greatest risk for the condition are then referred for genetic testing for confirmation.

Saving lives and resources through earlier diagnosis

Within the project, the NIHR funded two large studies to test how effectively FAMCAT could identify familial hypercholesterolaemia. Around 750,000 patients’ records were included in the first study, while the second involved over 1 million patients.

Published in The Lancet and the British Journal of General Practice, respectively, both studies confirmed that FAMCAT identified people with the condition more accurately than previously recommended methods.

The research was led by Professor Nadeem Qureshi, a leading expert on Primary Care Genetic and Genomics based at the University of Nottingham. He said: “Prior to FAMCAT, methods to identify possible familial hypercholesterolaemia in general practice referred many individuals without the condition and, in some areas, genetic testing services were overwhelmed by referred patients.”

“Our research showed that FAMCAT could be confidently applied across UK primary care to identify people with possible familial hypercholesterolaemia, reduce the pressure on services and prevent avoidable heart attacks.”

Professor Nadeem Qureshi, lead researcher for the FAMCAT project

1 in 5 GP practices (over 1,200 in England) now have access to the FAMCAT software to search for undiagnosed cases among their patients’ records.

Shaping guidelines in primary care

Following its uptake in primary care, additional NIHR funding and support from the NIHR Clinical Research Network helped the team make further improvements. Successful testing of its accuracy (published in openheart journal) and cost-effectiveness (Journal of Personalized Medicine), led to an updated FAMCAT2 being available to practices.

Their work has been influential in providing evidence for both the 2019 NICE familial hypercholesterolaemia guideline and Public Health England’s detection and management policy. In doing so, it has also supported the 2019 NHS Long Term Plan’s target of identifying 25% of familial hypercholesterolaemia within 5 years.

Outside of the UK, international interest in FAMCAT has led to use in health care settings in Malaysia, The Netherlands and Qatar.

This initial research led to further NIHR-funding to investigate how best to test patients’ relatives for familial hypercholesterolaemia. It is also informing work on a similar genetic condition, polygenic hypercholesterolaemia, by investigating methods to identify and manage it in primary care.

 The study was funded by the NIHR School for Primary Care Research.

More information about NIHR funded projects is available on the NIHR’s Funding & Awards website.

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