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Familial Hypercholesterolemia Paediatric Register 2013
An electronic register has now been established to:
- Monitor the effects of current and new treatments on growth, puberty, liver function and long term safety etc.
- Provide comparative audit data
- Provide anonymised data for valid research in the field.
The work is being led by Professor Steve Humphries and hosted by the Royal College of Physicians, in collaboration with the Royal College of Paediatrics and Child Health, HEARTUK, the British Heart Foundation and the British Inherited Metabolic Disease Group.
If you see children with Familial Hypercholesterolemia (FH) in your clinic and would be willing to register your patients, subject to consent, please go to the website and click on the menu ‘About the project’ to download the enrolment form or contact the Project Manager at firstname.lastname@example.org
The National Audit of the Management of Familial Hypercholesterolaemia is being undertaken by the RCP with funding from Heart UK, the British Heart Foundation, Cardiac Network Co-ordinating Group Wales and the RCP.
It aims to assess the implementation of the 2008 NICE Clinical Guideline Identification and Management of Familial Hypercholesterolaemia (CG71) in England, Wales, Northern Ireland and Scotland.
FH Audit 2010
The Key Findings from the organisational and clinical audit:
The 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 UK wide. 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 provinces, 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 were 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 with respect to annual review, collection of detailed pedigree data and initiation of cascade testing.
A full report is available below.
A pilot project was undertaken by the Royal College of Physicians 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. The full report is available below.
Further information can also be obtained by contacting: email@example.com