title: Opportunistic screening for familial hypercholesterolaemia via a community laboratory.
abstract: BACKGROUND
  Familial hypercholesterolaemia (FH) is an inherited disorder characterized by increased serum low-density lipoprotein (LDL)-cholesterol concentrations and premature atherosclerotic cardiovascular disease. The majority of people with FH are currently undiagnosed. We sought to determine the ability of a community laboratory to screen for individuals with potential FH.
  
  
  METHODS
  Serum LDL-cholesterol concentrations issued by a private community laboratory in Western Australia were reviewed over a one-year period (1 May 2010 to 31 April 2011). We assessed the prevalence of possible FH based on LDL-cholesterol thresholds employed by the Make Early Diagnosis-Prevent Early Death (MED-PED), the Simon Broome Registry and the Dutch Lipid Clinic Network criteria.
  
  
  RESULTS
  During this period, 84,823 people had 99,467 serum LDL-cholesterol measurements, with 91.8% requested by general practitioners. A secondary cause of hypercholesterolaemia was identified in 8.3% of subjects with an LDL-cholesterol ≥5.0 mmol/L. The prevalence of FH based on an LDL-cholesterol ≥6.5 mmol/L, the 99.75th percentile, was 1:398 in this sample population; similarly, the MED-PED LDL-cholesterol criteria gave a prevalence of 1:482.
  
  
  CONCLUSIONS
  The community laboratory is well placed to screen opportunistically for subjects with potential FH. This may be achieved using either the MED-PED criteria or a serum LDL-cholesterol cut-off point of ≥6.5 mmol/L, irrespective of age. Further investigation is required to determine the most effective method of identifying these individuals and, thereby, ensuring referral to a specialist lipid clinic.
authors.affiliation: Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, GPO Box X2213, Perth, WA 6847, Australia. damon.bell1@yahoo.com
authors.forename: Damon A
authors.initials: DA
authors.lastname: Bell
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Hooper
authors.forename: Robert
authors.initials: R
authors.lastname: Bender
authors.forename: Jenny
authors.initials: J
authors.lastname: McMahon
authors.forename: Glenn
authors.initials: G
authors.lastname: Edwards
authors.forename: Frank M
authors.initials: FM
authors.lastname: van Bockxmeer
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Watts
authors.forename: John R
authors.initials: JR
authors.lastname: Burnett
mesh_terms: D000328:Adult; D008078:Cholesterol, LDL / Q000097:blood*; D019058:Community Networks; D042241:Early Diagnosis; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000453:epidemiology; D007753:Laboratories; D008403:Mass Screening
chemical_list: D008078:Cholesterol, LDL