@article{0c9bb58df7354176ac174e5651178893,
title = "Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia",
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 recommendations have been informed by an exponential growth in published works and new evidence over the last 5 years and are compatible with a contemporary global call to action on FH. Recommendations are given on the detection, diagnosis, assessment and management of FH in adults and children. Recommendations are also made on genetic testing and risk notification of biological relatives who should undergo cascade testing for FH. Guidance on management is based on the concepts of risk re-stratification, adherence to heart healthy lifestyles, treatment of non-cholesterol risk factors, and safe and appropriate use of LDL-cholesterol lowering therapies, including statins, ezetimibe, proprotein convertase subtilisin/kexin type 9 inhibitors and lipoprotein apheresis. Broad recommendations are also provided for the organisation and development of health care services. Recommendations on best practice need to be underpinned by good clinical judgment and shared decision making with patients and families. Models of care for FH need to be adapted to local and regional health care needs and available resources. A comprehensive and realistic implementation strategy, informed by further research, including assessments of cost-benefit, will be required to ensure that this new guidance benefits all Australian families with or at risk of FH.",
keywords = "Adults, Assessment, Cascade testing, Children, Diagnosis, Familial hypercholesterolaemia, Genetic testing, Guidance, Management, Organisation of care",
author = "{FH Australasia Network Consensus Working Group} and Watts, {Gerald F.} and Sullivan, {David R.} and Hare, {David L.} and Kostner, {Karam M.} and Horton, {Ari E.} and Bell, {Damon A.} and Tom Brett and Trent, {Ronald J.} and Poplawski, {Nicola K.} and Martin, {Andrew C.} and Shubha Srinivasan and Justo, {Robert N.} and Chow, {Clara K.} and Jing Pang and Zanfina Ademi and Ardill, {Justin J.} and Wendy Barnett and Bates, {Timothy R.} and Beilin, {Lawrence J.} and Warrick Bishop and Black, {J. Andrew} and Peter Brett and Alex Brown and Burnett, {John R.} and Bursill, {Christina A.} and Alison Colley and Clifton, {Peter M.} and Ekinci, {Elif I.} and Luke Elias and Figtree, {Gemma A.} and Forge, {Brett H.} and Jacquie Garton-Smith and Graham, {Dorothy F.} and Ian Hamilton-Craig and Hamilton-Craig, {Christian R.} and Clare Heal and Hespe, {Charlotte M.} and Hooper, {Amanda J.} and Howes, {Laurence G.} and Jodie Ingles and John Irwin and Janus, {Edward D.} and Nadarajah Kangaharan and Keech, {Anthony C.} and Kirke, {Andrew B.} and Leonard Kritharides and Kyle, {Campbell V.} and Paul Lacaze and Kirsten Lambert and Li, {Stephen C.H.} and Wynand Malan and Stjepana Maticevic and McQuillan, {Brendan M.} and Sam Mirzaee and Mori, {Trevor A.} and Morton, {Allison C.} and Colquhoun, {David M.} and Moullin, {Joanna C.} and Nestel, {Paul J.} and Nowak, {Kristen J.} and O'Brien, {Richard C.} and Nicholas Pachter and Page, {Michael M.} and Annette Pedrotti and Psaltis, {Peter J.} and Jan Radford and Reid, {Nicola J.} and Robertson, {Elizabeth N.} and Ryan, {Jacqueline D.M.} and Sarkies, {Mitchell N.} and Schultz, {Carl J.} and Scott, {Russell S.} and Christopher Semsarian and Simons, {Leon A.} and Catherine Spinks and Tonkin, {Andrew M.} and {van Bockxmeer}, Frank and Waddell-Smith, {Kathryn E.} and Ward, {Natalie C.} and White, {Harvey D.} and Wilson, {Andrew M.} and Ingrid Winship and Woodward, {Ann Marie} and Nicholls, {Stephen J.}",
year = "2021",
month = mar,
doi = "10.1016/j.hlc.2020.09.943",
language = "English",
volume = "30",
pages = "324--349",
journal = "Heart Lung and Circulation",
issn = "1443-9506",
publisher = "Academic Press",
number = "3",
}
