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Familial Hypercholesterolemia Paediatric Register 2013
Familial hypercholesterolaemia (also spelt familial hypercholesterolemia) is a genetic disorder characterised by having a high cholesterol level. It is one of the most common inherited conditions and it is estimated that it affects about 1 in 500 people in the UK. Patients with familial hypercholesterolaemia (FH) are at increased risk of premature coronary heart disease.
The FH paediatric register aims to establish how effective current therapies, offered for FH, are in children with the condition. This is an electronic register, with annual monitoring of the effects of current and new treatments on growth, puberty, liver function and long term safety.
Are all your paediatric patients with familial hypercholesterolaemia on the register?
If you see paediatric patients with FH we encourage you to add them, subject to consent, to the register. Download an enrolment form from the FH registry website or contact the project manager for more information: firstname.lastname@example.org.
Once patients are enrolled, they are eligible for free DNA testing by the Cardiovascular Genetics Research Laboratory at UCL, which is funded by the British Heart Foundation (BHF).
The FH team at the RCP is working with the Royal College of Paediatrics and Child Health, HEARTUK, the BHF and the British Inherited Metabolic Disease Group (BIMDG) to learn more about the ways in which services need to be improved to help reduce the future burden of coronary heart disease for patients with FH.
The electronic register will monitor the effects of current and new treatments on growth, puberty, liver function and long term safety etc, provide comparative audit data, and provide anonymised data for valid research in this field.
Video guide to familial hypercholesterolaemia
To help doctors and nurses explain FH to patients and their families, HEART UK has produced a short video, called A story of Hope, aimed at children and families where FH is present. A story of Hope is a short four-minute film about a family with a history of FH.
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.
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. The full report is available below.
Further information can also be obtained by contacting email@example.com