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Feature Article Genetics
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Familial hypercholesterolaemia: challenges in primary care

Tom Brett, Gerald Watts, Jacquie Garton-smith, Damon Bell, Alistair W Vickery, Jing Pang, Diane Arnold-reed
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Abstract
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.

    Picture credit: © Phototake/Bodell Communications, Inc/Diomedia.com

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