Familial hypercholesterolaemia (FH) is a genetic condition that causes high plasma levels of low-density lipoprotein cholesterol, significantly increasing the risk of premature atherosclerotic cardiovascular disease. FH remains underdiagnosed and undertreated, despite the existence of high-level evidence and clinical practice guidelines. Both under-prescribing and non-adherence to medications have been identified as contributing factors. The aim of this study was to identify the barriers and facilitators or potential solutions to the implementation of improved FH management in Australia, focussed on primary care integration, paediatric management, and treatment adherence.

Three (3) 2-hour virtual focus groups were conducted as part of the 2022 Australasian FH Summit (29 October 2022). A purposive cross-section of key stakeholder groups was sought at the Summit. The focus groups were co-facilitated by an implementation scientist and a clinician, audio recorded, transcribed, and notes were taken by the facilitators. Transcripts were analysed inductively and deductively according to a template analysis using NVivo.

There was a total of 27 workshop attendees across the three groups (n=6–14 each). We identified 27 barriers and 28 facilitators on the topics of integration of care with general practice (nine barriers and eight facilitators), paediatric management (eight barriers and eight facilitators), and treatment adherence (10 barriers and 12 facilitators), categorised according to whether they were patient-related, provider-related, or system-related. Common barriers across the priority areas included a lack of knowledge and skills in FH and urgency of treatment, patient fears of actual or perceived side effects from medications and clinician confidence in prescribing, and costs to patients and limited funding for coordinated models of care. Common facilitators included engaging patients in self-management and in advocacy, developing pathways for care for different risk profiles and ensuring coordination of care between primary and tertiary care settings, and improving communication between clinicians.

These findings provide a foundation for the development of empirically-based implementation strategies tailored to the Australian healthcare context and highlight the importance of multi-level approaches to improving FH detection and management. Future work that is focussed on mapping strategies to these barriers and facilitators using implementation frameworks is needed to develop a national implementation plan for the integration of new guidance on the care of FH.