Display options
Cite
Watts GF, Sullivan DR, Hare DL, et al. Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective. Am J Prev Cardiol. 2021;6:100151doi: 10.1016/j.ajpc.2021.100151.
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. (2021). Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective. American journal of preventive cardiology, 6100151. https://doi.org/10.1016/j.ajpc.2021.100151
Watts, Gerald F, et al. "Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective." American journal of preventive cardiology vol. 6 (2021): 100151. doi: https://doi.org/10.1016/j.ajpc.2021.100151
Watts GF, Sullivan DR, Hare DL, Kostner KM, Horton AE, Bell DA, Brett T, Trent RJ, Poplawski NK, Martin AC, Srinivasan S, Justo RN, Chow CK, Pang J. Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective. Am J Prev Cardiol. 2021 Feb 04;6:100151. doi: 10.1016/j.ajpc.2021.100151. eCollection 2021 Jun. PMID: 34327493; PMCID: PMC8315409.
Copy Download .nbib Format: NLM
Share it on

Am J Prev Cardiol. 2021 Feb 04;6:100151. doi: 10.1016/j.ajpc.2021.100151. eCollection 2021 Jun.

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

American journal of preventive cardiology

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,

Affiliations

  1. School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.
  2. Lipid Disorders Clinic, Cardiometabolic Service, Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, Western Australia, Australia.
  3. Department of Chemical Pathology, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.
  4. Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
  5. Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Australia.
  6. Department of Cardiology, Austin Health, Melbourne, Australia.
  7. Department of Cardiology, Mater Hospital, University of Queensland, Brisbane, Australia.
  8. Monash Heart and Monash Children's Hospital, Monash Health, Melbourne, Victoria, Australia.
  9. Monash Cardiovascular Research Centre, Melbourne, Victoria, Australia.
  10. Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
  11. Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Western Australia, Australia.
  12. Department of Clinical Biochemistry, Clinipath Pathology, Perth, Western Australia, Australia.
  13. Sonic Genetics, Sonic Pathology, Australia.
  14. General Practice and Primary Health Care Research, School of Medicine, University of Notre Dame Australia, Fremantle, Australia.
  15. Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.
  16. Central Clinical School, Faculty of Medicine and Health, University of Sydney, New South Wales, Australia.
  17. Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
  18. Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.
  19. Department General Paediatrics, Perth Children's Hospital, Perth, Western Australia, Australia.
  20. Division of Paediatrics, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.
  21. Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, Australia.
  22. Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
  23. Department of Paediatric Cardiology, Queensland Children's Hospital, Brisbane, Queensland, Australia.
  24. School of Medicine, University of Queensland, Brisbane, Queensland, Australia.
  25. Westmead Applied Research Centre, The University of Sydney, Sydney, New South Wales, Australia.
  26. Department of Cardiology, Westmead Hospital, Sydney, New South Wales, Australia.
  27. George Institute for Global Health, Sydney, New South Wales, Australia.

PMID: 34327493 PMCID: PMC8315409 DOI: 10.1016/j.ajpc.2021.100151

Abstract

INTRODUCTION: 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.

© 2021 The Authors. Published by Elsevier B.V.

Keywords: Adults; Care; Children; Familial hypercholesterolaemia; Guidance; Management; Prevention

Conflict of interest statement

The authors declare the following financial interests/personal relationships which may be considered as potential competing interests

References

  1. Nat Rev Cardiol. 2020 Jun;17(6):360-377 - PubMed
  2. J Clin Lipidol. 2017 Jul - Aug;11(4):858-871.e3 - PubMed
  3. JAMA Cardiol. 2020 Feb 1;5(2):217-229 - PubMed
  4. Atherosclerosis. 2016 Dec;255:128-139 - PubMed
  5. Eur Heart J. 2018 Apr 7;39(14):1162-1168 - PubMed
  6. Pharmacol Res. 2020 Aug;158:104891 - PubMed
  7. J Am Coll Cardiol. 2015 Sep 15;66(11):1250-1257 - PubMed
  8. Heart Lung Circ. 2021 Mar;30(3):324-349 - PubMed
  9. J Paediatr Child Health. 2018 Jul;54(7):741-747 - PubMed
  10. Heart Lung Circ. 2021 Feb;30(2):163-179 - PubMed
  11. N Engl J Med. 2016 Oct 27;375(17):1628-1637 - PubMed
  12. J Am Coll Cardiol. 2017 Aug 29;70(9):1162-1170 - PubMed
  13. Atherosclerosis. 2020 Apr;299:24-31 - PubMed
  14. Atheroscler Suppl. 2011 Oct;12(2):221-63 - PubMed
  15. J Am Coll Cardiol. 2019 Sep 10;74(10):e177-e232 - PubMed
  16. J Lipid Res. 2017 Sep;58(9):1765-1776 - PubMed
  17. Circulation. 2015 Dec 1;132(22):2167-92 - PubMed
  18. Clin Chem Lab Med. 2008;46(6):791-803 - PubMed
  19. Eur Heart J. 2015 Sep 21;36(36):2425-37 - PubMed
  20. Circ Res. 2014 Jan 17;114(2):307-10 - PubMed
  21. BMJ. 2008 Apr 26;336(7650):924-6 - PubMed
  22. Circulation. 2019 Mar 26;139(13):e603-e634 - PubMed
  23. Atherosclerosis. 2018 Oct;277:399-406 - PubMed
  24. N Engl J Med. 2019 Oct 17;381(16):1547-1556 - PubMed
  25. Atherosclerosis. 2019 Nov;290:1-8 - PubMed
  26. J Am Coll Cardiol. 2017 Sep 5;70(10):1290-1301 - PubMed
  27. Hum Mutat. 2016 Jun;37(6):564-9 - PubMed
  28. Heart Lung Circ. 2021 Mar;30(3):372-379 - PubMed
  29. BMJ Open. 2019 Jul 31;9(7):e030290 - PubMed
  30. JAMA. 2016 Sep 27;316(12):1289-97 - PubMed
  31. J Am Coll Cardiol. 2018 Aug 7;72(6):662-680 - PubMed
  32. J Clin Lipidol. 2019 Nov - Dec;13(6):860-872 - PubMed
  33. Heart Lung Circ. 2020 Apr;29(4):619-633 - PubMed
  34. J Am Coll Cardiol. 2019 Jun 25;73(24):e285-e350 - PubMed
  35. JACC Cardiovasc Imaging. 2019 Sep;12(9):1797-1804 - PubMed
  36. N Engl J Med. 2018 Nov 29;379(22):2097-2107 - PubMed
  37. Genet Med. 2015 May;17(5):405-24 - PubMed
  38. Atherosclerosis. 2018 Oct;277:483-492 - PubMed
  39. N Engl J Med. 2017 May 4;376(18):1713-1722 - PubMed
  40. Res Social Adm Pharm. 2020 Mar;16(3):390-395 - PubMed
  41. J Clin Lipidol. 2019 May - Jun;13(3):374-392 - PubMed
  42. J Am Coll Cardiol. 2015 Apr 7;65(13):1273-1282 - PubMed
  43. Circulation. 2017 May 30;135(22):2133-2144 - PubMed
  44. J Clin Lipidol. 2014 Jul-Aug;8(4):390-400 - PubMed
  45. Eur Respir J. 2018 Mar 29;51(3): - PubMed
  46. Eur Heart J. 2020 Jan 1;41(1):111-188 - PubMed
  47. J Eval Clin Pract. 2019 Jun;25(3):373-380 - PubMed
  48. J Clin Lipidol. 2018 Jul - Aug;12(4):948-957 - PubMed
  49. Curr Atheroscler Rep. 2018 May 19;20(6):31 - PubMed

Publication Types