Familial hypercholesterolaemia remains largely unrecognised and undertreated in Australian primary care. A new approach involving increased awareness, early detection, lifelong treatment and cascade testing of relatives is essential to improve outcomes of patients with this disorder.

Key Points

  • Familial hypercholesterolaemia (FH) is a relatively common inherited disorder of high cholesterol levels.
  • FH can lead to atherosclerosis, premature coronary artery disease and early death if left untreated.
  • Cascade testing of relatives of patients with FH is cost- effective and necessary as one in two will have the condition.
  • Innovations in primary care can improve FH detection in the community.
  • An integrated approach to FH detection involving GPs, specialists and pathology laboratories is recommended.
  • Primary care teams are well positioned to provide a sustainable approach to FH diagnosis and management but greater awareness of this condition is needed.


familial hypercholesterolaemia, treatment, cascade testing, Australian primary care


This article originally published:

Brett, Tom; Watts, Gerald F.; Garton-Smith, Jacquie; Bell, Damon A.; Vickery, Alistair W.; Pang, Jing; Arnold-Reed, Diane; (2015). Familial hypercholesterolaemia: Challenges in primary care. Medicine Today 16 (8): 20-26.

Permission granted by Medicine Today for use on ResearchOnline@ND.

©Medicine Today 2015 (http://www.medicinetoday.com.au).

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