Are patients with familial hypercholesterolaemia well managed in lipid clinics? An audit of eleven clinics from the Department of Health Familial Hypercholesterolaemia Cascade Testing project

Abstract

Background: Familial hypercholesterolaemia (FH) is an autosomal co-dominant disorder which is relatively common, leads to high levels of LDL-cholesterol and if untreated to early coronary heart disease. An audit of current practice at National Health Service Trusts in England was undertaken to determine whether FH patients meet the diagnostic criteria for FH; are being offered appropriate advice and treatment; and to what extent their families are contacted and offered testing for the disorder. Methods: Medical records of known FH patients (over 18 years of age and diagnosed before 31 December 2003) were accessed to obtain information on diagnosis, treatment and family tracing. Results: The records of 733 FH patients were examined, 79% met the UK 'Simon Broome' register criteria for the diagnosis of definite or possible FH. Analyses showed that patients were usually offered appropriate advice and treatment, with 89% being on a statin. However, the audit indicated a high variability in family tracing between the sites, with significant differences in the frequency of inclusion of a family pedigree in the notes (range 1-71%, mean 35%); the general practitioner (GP) being advised that first-degree relatives should be tested (range 4-52%, mean 27%); and the proportion of relatives contacted and tested (range 6-50%, mean 32%). Conclusion: FH patients are well cared for in lipid clinics in England, are being given appropriate lifestyle advice and medication, but an increase in recording of LDL-cholesterol levels may lead to improvements in their management. Practice in family tracing appears to vary widely between clinics.

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

“…In spite of the recent explosion of interest and research in FH, the care of patients and families remains suboptimal [18,21,25,[188][189][190]. This provides an important mandate to standardise and improve service delivery at all levels.…”

“…Care pathways for patient flow among all health providers, including primary care, should be developed and be specified for local needs [8,31,33,97]. Establishing a national network of clinics managing people with FH is recommended for standardising care and facilitating research [8,80,189,190]. FH urgently needs an International…”

Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation.

“…Clinical expert opinion in the UK suggests that, to be able to fully detect all deletions and duplications of the gene, the MLPA test would be required as LIPOchip's own method of detecting these cases may be inadequate. Additional data presented at the spring meeting of the CMGS 70 suggest that (using data from Bristol's NHS Hospital Genetics Laboratory) LIPOchip version 10 may be inadequate to detect copy number changes compared with MLPA, with only two cases out of a sample of seven correctly identified using LIPOchip.…”

“…This has been confirmed in personal communication with Dr Zosia Miedzybrodzka, who estimates that, for every three patients tested in Aberdeen using CGA, on average only one will have a detectable FH-causing mutation. NICE CG71 1 estimates, using data extracted from the UK FH Cascade Audit Project (FHCAP), 70 that 80% of patients clinically diagnosed with definite FH will have a detectable FH-causing mutation and 30% of those diagnosed as possible FH will have a detectable mutation. Given that the FH audit 2010 18 identifies 36% as definite FH and 58% as possible FH (the remainder being homozygous or not stated), this would suggest that 46.2% of patients clinically diagnosed as definite FH or possible FH would have an identifiable genetic mutation using CGA.…”

“…Moreover, it has been suggested that interpretation of the Simon Broome diagnostic criteria is not uniform throughout the lipid clinics in the UK and this may also lead to variation in the detection of FH. 70 Variation was observed across countries in the sensitivity of Elucigene FH20 in detecting FH in those with a clinical diagnosis of definite FH. Elucigene FH20 showed sensitivity of 49% in confirming FH in those with a clinical diagnosis of definite FH in a UK population (the prevalence of FH in the study was 28%), whereas sensitivity of only 29% was observed in an Australian population in which the prevalence of definite FH in the study was very high (78%).…”