Detecting familial hypercholesterolaemia in general practice

Aust Fam Physician. 2012 Dec;41(12):965-8.


Background: Familial hypercholesterolaemia (FH) is a relatively common inherited cause of premature coronary artery disease. However, a significant number of people remain undiagnosed. Several clinical guidelines on FH have been published recently, but these need to be placed in context for Australian general practitioners.

Objective: We review four possible approaches to screening for FH in the general practice setting: two opportunistic and two systematic. Evidence for these screening approaches is drawn from the current literature on FH.

Discussion: General practitioners are well placed to institute screening for FH in the general practice setting. Screening approaches could include opportunistic screening for family history, opportunistic screening of lipids, systematic searching of general practice electronic records, and universal screening of children. The role of specialist lipid clinics is important in the GP management of patients with FH.

Publication types

  • Review

MeSH terms

  • Australia
  • General Practice / methods*
  • Humans
  • Hyperlipoproteinemia Type II / diagnosis*
  • Mass Screening
  • Referral and Consultation