Developing and validating an optimised tool to identify familial hypercholesterolaemia in routine primary care.

Familial hypercholesterolaemia (FH) is a common inherited condition characterised by raised cholesterol and affects up to 320,000 people in the UK. Despite National Institute of Health and Care Excellence (NICE) Guidance encouraging identification of individuals with possible FH in primary care, over 80% of people with FH are still not identified. Without treatment, individuals with FH have a substantial risk of heart attack and premature death. These risks can be dramatically reduced by starting medicines to lower cholesterol levels.

Currently it is recommended for GPs to identify possible FH by examining patients who have raised cholesterol and a family history of heart disease. We, however, found this does not accurately identify people with FH and therefore results in many unnecessary referrals of individuals without FH to specialists.

Based on using medical records from 3 million patients from a database called Clinical Practice Research Datalink, we developed a new tool which identifies people with possible FH in 2015 called ‘FAMCAT’.

The first version of FAMCAT is now being used in over 1000 General Practices and has been well received feedback by GPs and other general practice staff. We have noted significant improvements in the quality of data and received feedback on incorporating new information related to FH.

Based on this new information and advanced analytic methods now available, we now need to update the tool to reflect current changes in patient records. Using CPRD, this study will find out if new information from patient records need to be added to the tool. Improvements to FAMCAT will further enhance its accuracy for use in health care.  

Amount awarded: £11 993