About this event
The RSM is dedicating an entire day to the in-depth understanding of genetic causes, identification and management of Familial Hypercholesterolaemia (FH). You will have an unprecedented opportunity to learn about this under-diagnosed, potentially fatal, but eminently treatable disorder.
With a documented prevalence of 1 in 250, FH is now known to be one of the most common genetic diseases, affecting around 220,000 individuals in the UK.
You will be updated on advances in DNA testing in the NHS, the genetics of FH, new recommendations in the NICE 2017 FH guidelines, the new HEARTUK Paediatric FH management guidelines and potential future identification of children and parents with FH by universal screening, electronic note searching for possible FH by GPs, the cost consequences of different case-finding strategies to identify patients with severe FH and of not identifying and managing FH, and of the way clinicians are tackling problems of commissioning the care pathway for FH patients.
- The NHS long term plan for FH and the proposed London minimum data set
- The key changes to the 2017 NICE update of the identification and management of FH
- The key role of GPs and utility of electronic note searching algorithms to identify possible FH patients for referral
- New advances in the genetic causes of the FH phenotype (monogenic and polygenic) and how this leads to a precision medicine approach for these patients
- The UK and international approaches for universal screening for FH in childhood
- The Statement of Care for management of children with FH