title: The potential role of an expert computer system to augment the opportunistic detection of individuals with familial hypercholesterolaemia from a community laboratory.
abstract: BACKGROUND
  Familial hypercholesterolaemia (FH) is the most common monogenic cause of premature atherosclerotic cardiovascular disease (CVD). However, most individuals with FH remain undiagnosed. We sought to determine if an expert system (ES) at a community laboratory could identify information relevant for estimating an individual's likelihood of FH using the Dutch Lipid Clinic Network criteria (DLCNC).
  
  
  METHODS
  An ES (RippleDown®) retrospectively analysed laboratory results and clinical details on the current and previous lipid requests from a community laboratory in Western Australia, over 12months.
  
  
  RESULTS
  84,823 individuals had ≥1 LDL-cholesterol request with data available on 84,083 (99.1%). Clinical details were provided on 71,282 (84.8%) individuals' current or previous requests. History relevant to the DLCNC was present in 883 (1.1%) individuals, with premature CVD and non-cardiac vascular disease present in 177 and 64 individuals, respectively. Statin therapy was reported in 5118 individuals; 112 individuals with a current LDL-cholesterol of <6.5mmol/L had a previous LDL-cholesterol of ≥6.5mmol/L.
  
  
  CONCLUSIONS
  The ES was able to identify information that increased the likelihood of FH in 5471 cases. The ability to detect individuals with premature CVD and to classify them based on their highest LDL-cholesterol may augment FH detection, although further investigation is required to confirm this.
authors.affiliation: Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia; School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Department of Cardiology, Royal Perth Hospital, Perth, Australia. Electronic address: damon.bell@health.wa.gov.au.
authors.forename: Damon A
authors.initials: DA
authors.lastname: Bell
authors.affiliation: Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Australia.
authors.forename: Glenn
authors.initials: G
authors.lastname: Edwards
authors.affiliation: Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia; School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; School of Pathology & Laboratory Medicine, University of Western Australia, Perth, Australia.
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Hooper
authors.affiliation: Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Australia.
authors.forename: Jenny
authors.initials: J
authors.lastname: McMahon
authors.affiliation: Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia; School of Surgery, University of Western Australia, Perth, Australia.
authors.forename: Frank M
authors.initials: FM
authors.lastname: van Bockxmeer
authors.affiliation: School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Department of Cardiology, Royal Perth Hospital, Perth, Australia.
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Watts
authors.affiliation: Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia; School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Department of Cardiology, Royal Perth Hospital, Perth, Australia.
authors.forename: John R
authors.initials: JR
authors.lastname: Burnett
mesh_terms: D064790:Clinical Laboratory Services; D005103:Expert Systems; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies
keywords: Community laboratory; Detection; Expert computer system; Familial hypercholesterolaemia