Genetic testing for familial hypercholesterolaemia: A test for the family
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.
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.
genetic testing, familial hypercholesterolaemia, diagnosis and management