Murdoch University Research Repository

Welcome to the Murdoch University Research Repository

The Murdoch University Research Repository is an open access digital collection of research
created by Murdoch University staff, researchers and postgraduate students.

Learn more

Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective

Watts, G.F., Sullivan, D.R., Hare, D.L., Kostner, K.M., Horton, A.E., Bell, D.A., Brett, T., Trent, R.J., Poplawski, N.K., Martin, A.C., Srinivasan, S., Justo, R.N., Chow, C.K., Pang, J., Ademi, Z., Ardill, J.J., Barnett, W., Bates, T.R, Beilin, L.J., Bishop, W., Black, J.A., Brown, A., Burnett, J.R., Bursill, C.A., Colley, A., Clifton, P.M., Ekinci, E.I., Figtree, G.A., Forge, B.H., Garton-Smith, J., Graham, D.F., Hamilton-Craig, I., Hamilton-Craig, C.R., Heal, C., Hespe, C.M., Hooper, A.J., Howes, L.G., Ingles, J., Janus, E.D., Kangaharan, N., Keech, A.C., Kirke, A.B., Kritharides, L., Kyle, C.V., Lacaze, P., Li, S.C.H., Maticevic, S., McQuillan, B.M., Mirzaee, S., Mori, T.A., Morton, A.C., Colquhoun, D.M., Moullin, J.C., Nestel, P.J., Nowak, K.J., O'Brien, R.C., Pachter, N., Page, M.M., Psaltis, P.J., Radford, J., Reid, N.J., Robertson, E.N., Ryan, J.D.M., Sarkies, M.N., Schultz, C.J., Scott, R.S., Semsarian, C., Simons, L.A., Spinks, C., Tonkin, A.M., van Bockxmeer, F., Waddell-Smith, K.E., Ward, N.C., White, H.D., Wilson, A.M., Winship, I., Woodward, A.M., Nicholls, S.J., Brett, P., Elias, L., Malan, W., Irvin, J., Lambert, K. and Pedrotti, A. (2021) Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective. American Journal of Preventive Cardiology, 6 . Art. 100151.

Free to read:
*No subscription required


Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease, with significant potential for positive impact on public health and healthcare savings. New clinical practice recommendations are presented in an abridged guidance to assist practitioners in enhancing the care of all patients with FH.

Main recommendations
Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. There is a key role for general practitioners (GPs) working in collaboration with specialists with expertise in lipidology. Advice is given on genetic and cholesterol testing and risk notification of biological relatives undergoing cascade testing for FH; all healthcare professionals should develop skills in genomic medicine. Management is under-pinned by the precepts of risk stratification, adherence to healthy lifestyles, treatment of non-cholesterol risk factors, and appropriate use of low-density lipoprotein (LDL)-cholesterol lowering therapies, including statins, ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. Recommendations on service design are provided in the full guidance.

Potential impact on care of FH
These recommendations need to be utilised using judicious clinical judgement and shared decision making with patients and families. Models of care need to be adapted to both local and regional needs and resources. In Australia new government funded schemes for genetic testing and use of PCSK9 inhibitors, as well as the National Health Genomics Policy Framework, will enable adoption of these recommendations. A broad implementation science strategy is, however, required to ensure that the guidance translates into benefit for all families with FH.

Item Type: Journal Article
Publisher: Elsevier BV
Copyright: © 2021 The Authors.
Item Control Page Item Control Page