Feature Article

Genetic testing for familial hypercholesterolaemia: a test for the family

Feature Article

Genetic testing for familial hypercholesterolaemia: a test for the family

CATHERINE SPINKS, GERALD F. WATTS, Jing Pang, Tom Brett, DAVID R. SULLIVAN

Figures

© GEBER86/ISTOCKPHOTO.COM models used for illustrative purposes only
© GEBER86/ISTOCKPHOTO.COM models used for illustrative purposes only

Abstract

Familial hypercholesterolaemia is a relatively common inherited condition that raises the risk of severe cardiovascular disease 20-fold. Genetic testing to confirm the diagnosis in the index patient followed by GP-led family screening can allow early diagnosis and management to lower risk.

Key Points

  • Genetic testing for familial hypercholesterolaemia (FH) is now listed on the Medicare Benefits Schedule.
  • The main benefit of genetic testing for FH is to enable cascade testing of at-risk family members.
  • People with FH are at extremely high risk of cardiovascular disease (CVD), and thus have the most to gain from therapeutic intervention and lifestyle advice for CVD risk reduction.
  • GPs are ideally placed to support families with FH.
  • Cascade testing of family members opens the door for GP-guided diagnosis of family members and management of FH.
  • FH is not rare, with a prevalence of about 1 in 300 in Australia; all GPs will encounter FH in their practice.