Familial hypercholesterolaemia in Scottish children: effectiveness of the cascade screening programme and barriers to effective implementation

The study will evaluate the implementation of the NHS Scotland genetic cascade screening programme for familial hypercholesterolaemia (FH), focussing on the identification, assessment and management and preliminary outcomes of children with FH. It will measure the numbers of children identified, their geographical distribution, the referral patterns and their treatment.  Preliminary evidence suggests there is considerable variation across Scotland. This will be audited against published guidelines.  This information will be used to judge the effectiveness of the programme, and to identify variation in practice, gaps in service provision and barriers to implementation.