Genetic testing for familial hypercholesterolaemia: A test for the family
Publication Details
Spinks, C.,
Watts, G. F.,
Pang, J.,
Brett, T.,
&
Sullivan, D. R.
(2021).
Genetic testing for familial hypercholesterolaemia: A test for the family.
Medicine Today, 22 (7), 10-20.
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