The National Audit of the Management of Familial Hypercholesterolaemia was undertaken and funded by the RCP funding from Heart UK, the BHF, and Cardiac Network Co-ordinating Group Wales. It assessed the implementation of the 2008 NICE clinical guideline Identification and Management of Familial Hypercholesterolaemia (CG71) in England, Wales, Northern Ireland and Scotland.
Key findings from the organisational and clinical audit in 2010:
- Clinical management in lipid clinics is of a good standard for individual patients who have been diagnosed with FH.
- Organisational aspects of the care pathway for FH are still being developed, but current resources are inadequate to cope with the identification of the predicted FH relatives of affected cases across the UK. This includes access to trained staff (86% of sites had no lipid specialist nurses), IT provision and pedigree drawing.
- There is a major lack of family 'cascade' testing, whether carried out on the basis of lipid levels or, more effectively, by a DNA diagnosis.
- While there is good access to DNA diagnosis, and funding for DNA testing in the devolved nations, access and funding in England is poor.
- There is a shortfall in child-focused services throughout the country, with only 26% of sites offering paediatric FH services. Where such services have been audited they are of a good standard.
- While good management of FH patients is occurring in both small and large sites, there is some evidence that small sites adhere less fully to key aspects of the guideline. This is particularly the case with respect to annual review, collection of detailed pedigree data and initiation of cascade testing.
FH pilot 2009
A pilot project was undertaken by the RCP to audit the organisation of services and clinical management of care for patients with FH, based on the NICE guidelines.
The pilot project surveyed 12 sites in England and two in Wales.