Improving Identification of Familial Hypercholesterolaemia in Primary Care Using a New Case Ascertainment Tool (FAMCAT)

Multi-centre, non-randomised, non-controlled quasi-experimental study with nested qualitative study and economic appraisal.

Improving the identification of patients at high risk of cardiovascular disease in primary care, caused by conditions such as familial hypercholesterolaemia (FH), is a well-recognised national priority to prevent morbidity and mortality by early effective intervention.

This study will prospectively evaluate the clinical utility of the new primary care FH identification tool (FAMCAT) for identifying undiagnosed FH in routine primary care practice; and to assess its appropriateness, acceptability and cost-effectiveness.

This study will answer the following research questions (RQ):

1. What is the detection rate for new genetically-confirmed FH cases using the FAMCAT algorithm?
2. Is the FAMCAT tool appropriate and acceptable to practitioners and patients?
3. How can the FAMCAT tool be optimised to improve identification of FH?
4. What is the potential cost-effectiveness of the FAMCAT tool compared with current practice to identify patients with FH?
5. Can the FAMCAT intervention be improved?
6. What definitive study design and outcome measures are needed to provide robust evidence on whether to introduce FAMCAT into primary care practice?

RQ(1) & (3) will be answered by a quasi-experimental diagnostic accuracy study; RQ(2) & (5) answered by qualitative study; RQ (4) answered by economic appraisal and RQ(6) informed by all previous studies.