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

Damon Bell, G. Edwards, Amanda Hooper, J. Mcmahon, Frank Van Bockxmeer, Gerald Watts, John Burnett

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

Abstract

© 2015 . 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 12. months. 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
Original languageEnglish
Pages (from-to)18-21
JournalClinica Chimica Acta
Volume448
DOIs
Publication statusPublished - 2015

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