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Improving detection and management of familial hypercholesterolaemia in Australian general practice

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posted on 2023-05-20, 23:29 authored by Brett, T, Chan, DC, Janette RadfordJanette Radford, Heal, C, Gill, G, Hespe, C, Vargas-Garcia, C, Condon, C, Sheil, B, Li, IW, Sullivan, DR, Vickery, AW, Pang, J, Arnold-Reed, DE, Watts, GF

Objective: Familial hypercholesterolaemia (FH) is characterised by elevated low-density lipoprotein (LDL)-cholesterol and increased risk of cardiovascular disease. However, FH remains substantially underdiagnosed and undertreated. We employed a two-stage pragmatic approach to identify and manage patients with FH in primary healthcare.

Methods: Medical records for 232 139 patients who attended 15 general practices at least once in the previous 2 years across five Australian States were first screened for potential risk of FH using an electronic tool (TARB-Ex) and confirmed by general practitioner (GP) clinical assessment based on phenotypic Dutch Lipid Clinic Network Criteria (DLCNC) score. Follow-up GP consultation and management was provided for patients with phenotypic FH.

Results: A total of 1843 patients were identified by TARB-Ex as at potential risk of FH (DLCNC score ≥5). After GP medical record review, 900 of these patients (49%) were confirmed with DLCNC score ≥5 and classified as high-risk of FH. From 556 patients subsequently clinically assessed by GPs, 147 (26%) were diagnosed with phenotypic FH (DLCNC score >6). Follow-up GP consultation and management for 77 patients resulted in a significant reduction in LDL-cholesterol (-16%, p<0.01). A higher proportion of these patients attained the treatment target of 50% reduction in LDL-cholesterol (74% vs 62%, p<0.001) and absolute levels of LDL-cholesterol goals compared with baseline (26% vs 12%, p<0.05).

Conclusions: A pragmatic approach integrating electronic medical record tools and clinical GP follow-up consultation is a feasible method to identify and better manage patients with FH in the primary healthcare setting.

Funding

National Health & Medical Research Council

Deakin University

James Cook University

Primary Health Tasmania

University of Notre Dame Australia

University of Western Australia

History

Publication title

Heart

Volume

107

Issue

15

Pagination

1213-1219

ISSN

1355-6037

Department/School

Tasmanian School of Medicine

Publisher

B M J Publishing Group

Place of publication

British Med Assoc House, Tavistock Square, London, England, Wc1H 9Jr

Rights statement

© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial.

Repository Status

  • Open

Socio-economic Objectives

Health system performance (incl. effectiveness of programs); Primary care; Preventive medicine