Related Projects

FH Children’s Register:

In 2008 the NICE guideline CG71 was published documenting the care pathway and management of adults and children with FH.   One of the strong recommendations was that all children with FH should be identified before the age of 10, in order that lifestyle, and where necessary statin treatment, should be initiated to reduce their subsequent risk.  These children will be primarily found through ‘cascade testing’ by tracing the relatives of the 15,000 or so known index cases with FH currently being treated in lipid clinics throughout the UK.  In 2010 we estimated that less than 400 children with FH had been identified, but over the next few years, in part driven by the funding from the BHF of FH Nurses, we anticipate that a large number of children with FH will be identified.  It has therefore been an opportune moment to establish an electronic record of these children so that their management can be audited, but also so that several important questions about the safety and efficacy of statin treatment can be addressed.  While it is clear that statin treatment in adults has a good safety record, there are no long term studies of safety in children, with the longest studies usually not extending past two years, and simply following up lipid levels, growth rates, progression through puberty, and capturing information on any major side effects. The unique aspect of the registry is that on an annual basis the registering clinician is prompted to update information from the latest outpatient visit with the lipid profile, height and weight, progression through puberty, treatment, side effects and information about development of symptoms or measurement of carotid IMT. As of July 2015 over 300 children have been registered from over 30 centres UK wide, and a paper reporting the baseline characteristics of these children is being prepared. 

Visit the FH children's register 

Apheresis in Homozygous FH patients:   

Homozygous FH is rare with such patients representing perhaps 1 per million of the population. They have a very severe form of the disease with onset of CHD symptoms by the second decade of life. Effective treatment is by twice monthly plasma apheresis, and this has been shown to very significantly extend life expectancy. We have helped to develop a web-based system to collect information on patients who are homozygous for FH who are undergoing apheresis, again in order to monitor safety and efficacy.  This work was initiated by Prof Gil Thompson and Dr Mary Seed and is now being carried out by Dr Dev Datta from Cardiff and Tina Dawson from HEART UK.