title: 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%).
  
  
  CONCLUSIONS
  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.
authors.affiliation: London IDEAS Genetics Knowledge Park, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.
authors.forename: S G
authors.initials: SG
authors.lastname: Hadfield
authors.forename: S
authors.initials: S
authors.lastname: Horara
authors.forename: B J
authors.initials: BJ
authors.lastname: Starr
authors.forename: S
authors.initials: S
authors.lastname: Yazdgerdi
authors.forename: D
authors.initials: D
authors.lastname: Bhatnagar
authors.forename: R
authors.initials: R
authors.lastname: Cramb
authors.forename: S
authors.initials: S
authors.lastname: Egan
authors.forename: R
authors.initials: R
authors.lastname: Everdell
authors.forename: G
authors.initials: G
authors.lastname: Ferns
authors.forename: A
authors.initials: A
authors.lastname: Jones
authors.forename: C B
authors.initials: CB
authors.lastname: Marenah
authors.forename: J
authors.initials: J
authors.lastname: Marples
authors.forename: P
authors.initials: P
authors.lastname: Prinsloo
authors.forename: A
authors.initials: A
authors.lastname: Sneyd
authors.forename: M F
authors.initials: MF
authors.lastname: Stewart
authors.forename: L
authors.initials: L
authors.lastname: Sandle
authors.forename: T
authors.initials: T
authors.lastname: Wang
authors.forename: M S
authors.initials: MS
authors.lastname: Watson
authors.forename: S E
authors.initials: SE
authors.lastname: Humphries
mesh_terms: D000554:Ambulatory Care Facilities; D008078:Cholesterol, LDL / Q000097:blood; D004739:England; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D008297:Male; D008485:Medical Audit; D008875:Middle Aged; D010353:Patient Education as Topic; D010821:Physicians, Family
chemical_list: D008078:Cholesterol, LDL