Familial hypercholesterolaemia

Developing an implementation strategy for enhancing the detection and management of familial hypercholesterolaemia in Australia

Project Members - Macquarie University

Dr Mitchell Sarkies – Chief Investigator

Professor Jeffrey Braithwaite – Chief Investigator

Dr Luke Testa – Post-Doctoral Research Fellow

External members

Professor Gerald Watts, Winthrop Professor, University of Western Australia – Chief Investigator

Associate Professor David Sullivan, Clinical Associate Professor, The University of Sydney – Chief Investigator

Project contacts

Dr Mitchell Sarkies

Mitchell.Sarkies@mq.edu.au

Project Description

Familial hypercholesterolaemia (FH) is a genetic condition that causes high cholesterol and cardiovascular disease. Despite its tragic consequences, FH remains under-diagnosed as only 10% of Australians with FH have been detected Our research seeks to enhance the detection and management of FH by identifying barriers to screening and testing. Once barriers are identified, we can implement solutions and overcome barriers to people receiving the best care available.

Background

There is trustworthy evidence to guide clinical management of FH. However, despite its tragic consequences for coronary artery disease (CAD) and a recently published consensus guidance for the care of FH in Australia, FH remains an underdiagnosed condition for which genetic testing and best practice management is not always delivered. Until now, there has been minimal research translation eff orts for FH in Australia.

Aims

The proposed research aims to create new knowledge for implementing practices that will improve the care for approximately 100,000 Australians at risk of CAD due to FH.

Design and method

This applied research translational project will implement enhanced detection and management of familial hypercholesterolaemia (FH) within the Australian healthcare system. The implementation strategy design will follow a two-stage process: 1) identify the barriers and enablers to testing and screening people for FH, and 2) design an implementation strategy by mapping interventions to overcome the identified barriers and enablers.

Funding acknowledgment

Heart Foundation Vanguard Grant APP105721