The potential role of an expert computer system to augment the opportunistic detection of individuals with familial hypercholesterolaemia from a community laboratory.

Journal: Clinica chimica acta; international journal of clinical chemistry
PMID:

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).

Authors

  • Damon A Bell
    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.
  • Glenn Edwards
    Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Australia.
  • Amanda J Hooper
    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.
  • Jenny McMahon
    Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Australia.
  • Frank M van Bockxmeer
    Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia; School of Surgery, University of Western Australia, Perth, Australia.
  • Gerald F Watts
    School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Department of Cardiology, Royal Perth Hospital, Perth, Australia.
  • John R Burnett
    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.