title: Systematic detection of familial hypercholesterolaemia in primary health care: a community based prospective study of three methods.
abstract: BACKGROUND
  Familial hypercholesterolaemia (FH), a co-dominantly inherited disease of cholesterol that markedly increases risk of premature coronary artery disease (CAD), is significantly under-diagnosed. Primary health care is increasingly seen as a setting in which to increase the detection rate of index cases. We report a prospective study of three methods of case detection using pre-existing primary health care services in one community.
  
  
  METHODS
  Three methods of case detection were tested: pathology laboratory database search, workplace health checks and general practice database search. People identified at risk by each of the three screening methods were offered detailed assessment for FH using the Dutch Lipid Clinic Network Criteria score (DLCNCS).
  
  
  RESULTS
  1316 participants underwent detailed assessment for FH. The proportion of at risk people identified for further assessment was in decreasing order: GP (659 of 2494, 26.4%), workplace assessment (60 of 268, 22.4%) and pathology database (597 of 4517, 13.2%) p<0.001. Eight-six (6.5%) were identified as clinical FH (DLCNCS>5) of which 59 had genetic testing and 11 of 59, 18.6%, were confirmed to have a mutation causing FH. Pathology database detected the greatest number of clinical FH (51 of 86, 59.3%) and mutation positive participants (8 of 11, 72.7%).
  
  
  CONCLUSIONS
  Screening within primary health care was successful in detecting participants with FH. An integrated case detection model combining screening of pathology and GP databases is proposed.
authors.affiliation: School of Primary, Aboriginal and Rural Health Care, University of Western Australia, Perth, Australia. Electronic address: andrew.kirke@rcswa.edu.au.
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Kirke
authors.affiliation: School of Primary, Aboriginal and Rural Health Care, University of Western Australia, Perth, Australia.
authors.forename: Rita A
authors.initials: RA
authors.lastname: Barbour
authors.affiliation: School of Medicine & Pharmacology, University of Western Australia, Perth, Australia.
authors.forename: Sally
authors.initials: S
authors.lastname: Burrows
authors.affiliation: School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; Lipid Disorders Clinic, Cardiovascular Medicine, Royal Perth Hospital, Perth, Australia; Department of Clinical Biochemistry, PathWest Royal Perth Hospital, Perth, Australia.
authors.forename: Damon A
authors.initials: DA
authors.lastname: Bell
authors.affiliation: School of Primary, Aboriginal and Rural Health Care, University of Western Australia, Perth, Australia.
authors.forename: Alistair W
authors.initials: AW
authors.lastname: Vickery
authors.affiliation: School of Primary, Aboriginal and Rural Health Care, University of Western Australia, Perth, Australia; General Practice and Primary Care Academic Centre, University of Melbourne, Melbourne, Australia.
authors.forename: Jon
authors.initials: J
authors.lastname: Emery
authors.affiliation: School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; Lipid Disorders Clinic, Cardiovascular Medicine, Royal Perth Hospital, Perth, Australia.
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Watts
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011320:Primary Health Care / Q000379:methods*; D011446:Prospective Studies
keywords: Case detection; Familial hypercholesterolaemia; General practice; Preventative cardiology; Primary health care; Screening