High blood cholesterol is an important risk factor for heart disease and heart attack. High cholesterol is common, but one in 250 people in the UK has a genetic condition linked to early heart disease.

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

Early diagnosis and treatment can save lives. However, less than 10% of people are diagnosed and treated, so more than 200,000 people are still at risk of early-onset heart disease.

With the support of a £520,000 NIHR award, researchers have developed new software to identify more people in primary care who are at high risk of familial hypercholesterolemia.

The Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT) software was designed to automatically search patient medical records. It analyzes a patient’s cholesterol and triglyceride (a type of fat in the blood) levels, other causes of elevated cholesterol, and family history to give the patient a risk score. People most at risk for this condition will undergo genetic testing to confirm.

Within this project, the NIHR funded two large-scale studies testing how effectively FAMCAT can identify familial hypercholesterolemia. The first study included records of approximately 750,000 patients, and the second study included more than 1 million patients.

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

The research was led by Professor Nadeem Qureshi, a leading expert in primary care genetics and genomics based at the University of Nottingham. He said: “Prior to the introduction of FAMCAT, the way general practices identified possible familial hypercholesterolemia referred many people without the symptoms, and in some areas even fewer people were referred. “Genetic testing services were overwhelmed with patients.”

“Our research will introduce FAMCAT across primary care in the UK to identify people at risk of familial hypercholesterolemia, reduce pressure on services and prevent avoidable heart attacks. We have shown that we can apply it with confidence.”

Professor Nadeem Qureshi, FAMCAT Project Principal Investigator

One in five GP practices (more than 1,200 in the UK) can now access FAMCAT software to search for undiagnosed cases in patient records.

Following its introduction into primary care, additional NIHR funding and support from the NIHR Clinical Research Network enabled the team to make further improvements. After successful testing of its accuracy (published in the openheart journal) and cost-effectiveness (Journal of Personalized Medicine), his updated FAMCAT2 is now available in clinics.

Their research has been influential in providing evidence for both the 2019 NICE Familial Hypercholesterolemia Guidelines and Public Health England’s Detection and Management Policy. In doing so, it also supported the 2019 NHS Long Term Plan’s aim to identify 25% of cases of familial hypercholesterolemia within five years.

Outside the UK, international interest in FAMCAT has led to its use in healthcare settings in Malaysia, the Netherlands and Qatar.

This initial study led to further funding from the NIHR to study how best to test for familial hypercholesterolemia in patients’ relatives. We are also informing research on a similar genetic disease, polygenic hypercholesterolemia, by studying how to identify and manage this disease in primary care.

This research was funded by the NIHR School of Primary Care Research.

For more information about NIHR-funded projects, please visit the NIHR Funding & Awards website.