Genetic testing for familial hypercholesterolaemia: A test for the family

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.

Keywords

genetic testing, familial hypercholesterolaemia, diagnosis and management

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