Journal article

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

Gerald F Watts, David R Sullivan, David L Hare, Karam M Kostner, Ari E Horton, Damon A Bell, Tom Brett, Ronald J Trent, Nicola K Poplawski, Andrew C Martin, Shubha Srinivasan, Robert N Justo, Clara K Chow, Jing Pang

HEART LUNG AND CIRCULATION | ELSEVIER SCIENCE INC | Published : 2021

Abstract

Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). There are approximately 100,000 people with FH in Australia. However, an overwhelming majority of those affected remain undetected and inadequately treated, consistent with FH being a leading challenge for public health genomics. To further address the unmet need, we provide an updated guidance, presented as a series of systematically collated recommendations, on the care of patients and families with FH. These r..

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Grants

Funding Acknowledgements

No funding from the pharmaceutical industry or other industry groups was obtained to support the development of this guidance on FH. ACM was supported by a Raine Clinician Research Fellowship. JP was supported by a Western Australian Health Translation Network (WAHTN) Early Career Fellowship and the Australian Government's Medical Research Future Fund.