Article Text
Abstract
Background The National Institute for Health and Care Excellence 2008 guidelines on the treatment and management of familial hypercholesterolaemia (FH) recommend that children with FH should be considered for statin treatment by the age of 10 years. The Paediatric FH Register was established in 2012 to collect baseline and long-term follow-up data on all children with FH in the UK.
Methods Paediatricians and adult lipidologists have been invited to enter baseline data on any child with a clinical diagnosis of FH using an electronic capture record.
Results Baseline data is on 232 children (50% boys, 80% Caucasian), with an untreated mean (SD) total cholesterol of 7.61 (1.48) mmol/L and low-density lipoprotein cholesterol (LDL-C) of 5.67 (1.46) mmol/L. Overall 111/232 (47.8%) of the children were on statins. Children over the age of 10 years at the most recent follow-up were twice as likely to be on statin treatment than those under 10 years (57.6% (102/177) vs 23.1% (9/39), p=0.00009). In both age groups, those subsequently on statin treatment had significantly higher diagnostic total and LDL-C (overall 6.01 (1.46) mmol/L vs 5.31 (1.37) mmol/L, p=0.00007), and had stronger evidence of a family history of early coronary heart disease (CHD) in parent or first-degree relative (overall 28.4% vs 19.0%, p=0.09). In statin-treated children LDL-C level was reduced by 35% (2.07 (1.38) mmol/L) compared with a reduction of 5.5% (0.29 (0.87) mmol/L), p=0.0001 in those not treated. None of those on statin had measured plasma levels of creatine kinase, alanine aminotransferase and AST indicative of statin toxicity (ie, >2.5 times the upper limit of the normal range).
Conclusions The data indicates that treatment decisions in children with FH are appropriately based on a stronger family history of CHD and higher LDL-C.
- Genetics
- Health services research
- Paediatric Practice
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Footnotes
Contributors SEH directs the Paediatric Register, devised the analytical strategy and contributed to the drafting of the manuscript. JC carried out the statistical analysis and commented on the manuscript. UR is the Clinical Champion for the Register and drafted the manuscript. Clinical colleagues and specialist nurses entered the patient data.
Funding The Register is supported by funds from the British Heart Foundation (BHF); HEART UK, Cardiac Network Co-ordinating Group Wales and the Royal College of Physicians. SEH is a BHF Professor and is funded by PG08/008, and by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. Paediatric FH Register Executive and Steering Group Members: The Executive Group: Chair: SEH. Members: KevinStewart, Rhona Buckingham, UR (Clinical Champion), Dr Mary Seed. The Steering Group: Chair: SEH. Members : UR, Drs Mary Seed, Nigel Capps, Peter Dale (Paediatrician Wales), Peter Robertson (Paediatrician Scotland), Professor Andrew Neil, Mark Fisher (Patient rep), Jo Whitmore (BHF), Lorraine Priestley-Barnham (BHF nurse), Dr Anupam Chakrapani (BIMDG), Professor Anne Greenough (RCPCH), Jules Payne (HEART UK). The project is managed by Helen Cardy, Amanda Pulfer and Anna Bishop Bailey from pH Associates.
Competing interests None declared.
Ethics approval Local research ethics committee approval was obtained in November 2012 from the national research ethics service committee North-East Newcastle and North Tyneside. (REC Number 12/NE/0398).
Provenance and peer review Not commissioned; externally peer reviewed.