Introduction Familial hypercholesterolaemia (FH), an autosomal dominant disorder of lipid metabolism, results in accelerated onset of atherosclerosis if left untreated. Lifelong treatment with diet, lifestyle modifications and statins enable a normal lifespan for most patients. Early diagnosis is critical. This protocol trials a primary care-based model of care (MoC) to improve detection and management of FH.
Methods and analysis Pragmatic cluster intervention study with pre-post intervention comparisons in Australian general practices. At study baseline, current FH detection practice is assessed. Medical records over 2 years are electronically scanned using a data extraction tool (TARB-Ex) to identify patients at increased risk. High-risk patients are clinically reviewed to provide definitive, phenotypic diagnosis using Dutch Lipid Clinic Network Criteria. Once an index family member with FH is identified, the primary care team undertake cascade testing of first-degree relatives to identify other patients with FH. Management guidance based on disease complexity is provided to the primary care team. Study follow-up to 12 months with TARB-Ex rerun to identify total number of new FH cases diagnosed over study period (via TARB-Ex, cascade testing and new cases presenting). At study conclusion, patient and clinical staff perceptions of enablers/barriers and suggested improvements to the approach will be examined. Resources at each stage will be traced to determine the economic implications of implementing the MoC and costed from health system perspective. Primary outcomes: increase in number of index cases clinically identified; reduction in low-density lipoprotein cholesterol of treated cases. Secondary outcomes: increase in the number of family cases detected/contacted; cost implications of the MoC.
Ethics and dissemination Study approval by The University of Notre Dame Australia Human Research Ethics Committee Protocol ID: 0 16 067F. Registration: Australian New Zealand Clinical Trials Registry ID: 12616000630415. Information will be disseminated via research seminars, conference presentations, journal articles, media releases and community forums.
Trial registration number Australian New Zealand Clinical Trials Registry ID 12616000630415; Pre-results.
- primary care
- lipid disorders
- coronary heart disease
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 and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Statistics from Altmetric.com
Contributors DEAR, TB and GFW developed the study protocol. DEAR, TB, GFW, JP, LT, IL, JGS, DB and AV contributed to review of the protocol. LT, DEAR and TB developed patient record extraction methods. CB, TG, DEAR and TB developed qualitative data collection questionnaires. LT and MB provided biostatistical input. IL provided input regarding health economic analysis. TG, DEAR and TB drafted and oversaw submission of the application for ethics approval and clinical trials registration. All authors contributed to the review and revision of the manuscript for submission.
Funding The study is funded by Sanofi-Aventis Australia Pty Ltd under an Investigator Sponsored Study Agreement (Study number DIREGL07823). The General Practice and Primary Health Care Research Unit is partly funded by the University of Notre Dame Collaborative Research Network (CRN) programme from the Australian Government. The funders had no input in the design of the study and will have no input in the analysis and interpretation of results.
Competing interests DEAR, AV, JGS, DB, JP, CB, IL and MB report grants from Sanofi-Aventis Australia Pty Ltd during the conduct of the study. TB reports grants from Sanofi-Aventis Australia Pty Ltd during the conduct of the study; personal fees and non-financial support from Sanofi-Aventis Australia Pty Ltd, outside the submitted work. GFW reports grants from Sanofi /Regeneron during the conduct of the study; grants and personal fees from Sanofi/Regeneron, grants and personal fees from Amgen, personal fees from Gemphire, personal fees from Kowa, outside the submitted work. LT reports grants and other from Sanofi-Aventis Australia Pty Ltd during the conduct of the study. TG reports other from Sanofi-Aventis Australia Pty Ltd during the conduct of the study.
Ethics approval The University of Notre Dame Australia Human Research Ethics Committee Protocol ID: 016067F. Australian New Zealand Clinical Trials Registry (ANZCTR) ID: 12616000630415.
Provenance and peer review Not commissioned; externally peer reviewed.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.