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
