Brett, Tom, Radford, Jan, Heal, Clare, Hespe, Charlotte Mary, Garton-Smith, Jacquie, Kirke, Andrew, Chan, Dick C., Pang, Jing, and Watts, Gerald F. (2021) Implications of new clinical practice guidance on familial hypercholesterolaemia for Australian general practitioners. Australian Journal of General Practice, 50 (9). pp. 616-621.

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Abstract

Background: Familial hypercholesterolaemia (FH) is a monogenic lipid disorder that may be overlooked in the diagnostic process.

Objective: The aim of this article is to review the key areas for identification and management of FH that affect Australian general practitioners (GPs).

Discussion: Recent consensus advice on the care of patients with FH in Australia provides an opportunity for GPs to increase their awareness and skills in diagnosing and managing FH. New Medicare Benefits Schedule items for genetic testing and Pharmaceutical Benefits Scheme listing for the use of proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors offer GPs additional supports to improve the care of patients with FH. A shared-care approach between GPs and non-GP specialists with expertise in multiple disciplines offers the best option to facilitate genetic testing and management of index cases and affected family relatives. Implementation of this guidance in the primary care setting remains an ongoing challenge and needs to be embraced as a high priority.

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