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Improving detection and management of familial hypercholesterolaemia in Australian general practice


Brett, T and Chan, DC and Radford, J and Heal, C and Gill, G and Hespe, C and Vargas-Garcia, C and Condon, C and Sheil, B and Li, IW and Sullivan, DR and Vickery, AW and Pang, J and Arnold-Reed, DE and Watts, GF, Improving detection and management of familial hypercholesterolaemia in Australian general practice, Heart, 107, (15) pp. 1213-1219. ISSN 1355-6037 (2021) [Refereed Article]

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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. 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.

DOI: doi:10.1136/heartjnl-2020-318813


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.

Item Details

Item Type:Refereed Article
Keywords:Familial Hypercholesterolaemia, general practice, preventive healthcare, atherosclerotic cardiovascular disease, cascade testing,
Research Division:Health Sciences
Research Group:Health services and systems
Research Field:General practice
Objective Division:Health
Objective Group:Public health (excl. specific population health)
Objective Field:Preventive medicine
UTAS Author:Radford, J (Professor Jan Radford)
ID Code:144506
Year Published:2021
Funding Support:National Health and Medical Research Council (GNT1142883)
Web of Science® Times Cited:11
Deposited By:Medicine
Deposited On:2021-05-26
Last Modified:2022-08-25
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