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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.
