Potential risk of early heart disease
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 the age of 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.
Early diagnosis saves lives and resources
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.
was announced on lancet and British Journal of General PracticeRespectively, both studies confirmed that FAMCAT identified symptomatic people 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 shows that FAMCAT is being rolled out across primary care in the UK to identify people at risk of familial hypercholesterolemia, reduce pressure on services and prevent avoidable heart attacks. It has been shown that it can be applied 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.
Developing guidelines in primary care
Following its introduction into primary care, additional NIHR funding and support from the NIHR Clinical Research Network enabled the team to make further improvements. We successfully tested its accuracy ( open heart journal) and cost-effectiveness (Personalized Medicine Journal), the updated FAMCAT2 is now available for practical use.
Their research has been influential in providing evidence for both. 2019 NICE Familial Hypercholesterolemia Guidelines and Public Health England Detection and Control Policy. By doing so, NHS Long Term Plan 2019 A goal of identifying 25% of familial hypercholesterolemia cases within 5 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 into this disease by studying how to identify and manage a similar genetic disease, polygenic hypercholesterolemia, in primary care.
This research was funded by: NIHR School of Primary Care Research.
For more information about the research, please visit NIHR funding and awards website.
