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A new electronic screening tool for identifying risk of familial hypercholesterolaemia in general practice
  1. Lakkhina Troeung1,
  2. Diane Arnold-Reed1,
  3. Wendy Chan She Ping-Delfos1,
  4. Gerald F Watts2,3,
  5. Jing Pang2,3,
  6. Marija Lugonja4,
  7. Max Bulsara5,
  8. David Mortley4,
  9. Matthew James1,6,7,
  10. Tom Brett1,4
  1. 1General Practice and Primary Care Research, School of Medicine, The University of Notre Dame Australia, Fremantle, Western Australia, Australia
  2. 2Cardiometabolic Clinic, Royal Perth Hospital, Perth, Western Australia, Australia
  3. 3School of Medicine and Pharmacology, The University of Western Australia, Crawley, Western Australia, Australia
  4. 4Mosman Park Medical Group, Mosman Park, Western Australia, Australia
  5. 5Institute for Health Research, The University of Notre Dame Australia, Fremantle, Western Australia, Australia
  6. 6Port Macquarie Base Hospital, Port Maquarie, New South Wales, Macquarie, Australia
  7. 7Royal North Shore Hospital, St Leonards, New South Wales, Australia
  1. Correspondence to Dr Lakkhina Troeung, General Practice and Primary Care Research, School of Medicine, The University of Notre Dame Australia, 19 Mouat Street, PO Box 1225, Fremantle WA 6959, Australia; lakkhina.troeung{at}nd.edu.au

Abstract

Objective To evaluate the performance of a new electronic screening tool (TARB-Ex) in detecting general practice patients at potential risk of familial hypercholesterolaemia (FH).

Methods Medical records for all active patients seen between 2012 and 2014 (n=3708) at a large general practice in Perth, Western Australia were retrospectively screened for potential FH risk using TARB-Ex. Electronic extracts of medical records for patients identified with potential FH risk (defined as Dutch Lipid Clinic Network Criteria (DLCNC) score ≥5) through TARB-Ex were reviewed by a general practitioner (GP) and lipid specialist. High-risk patients were recalled for clinical assessment to determine phenotypic FH diagnosis. Performance was evaluated against a manual record review by a GP in the subset of 360 patients with high blood cholesterol (cholesterol ≥7 mmol/L or low-density lipoprotein cholesterol ≥4.0 mmol/L).

Results Thirty-two patients with DLCNC score ≥5 were identified through electronic screening compared with 22 through GP manual review. Sensitivity was 95.5% (95% CI 77.2% to 99.9%), specificity was 96.7% (95% CI 94.3% to 98.3%), negative predictive accuracy was 99.7% (95% CI 98.3% to 100%) and positive predictive accuracy was 65.6% (95% CI 46.9% to 8%). Electronic screening was completed in 10 min compared with 60 h for GP manual review. 10 of 32 patients (31%) were considered high risk and recalled for clinical assessment. Six of seven patients (86%) who attended clinical assessment were diagnosed with phenotypic FH on examination.

Conclusions TARB-Ex screening is a time-effective and cost-effective method of systematically identifying potential FH risk patients from general practice records for clinical follow-up.

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