Peer Reviewed
Feature Article Genetics
Familial hypercholesterolaemia: challenges in primary care
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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.
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