The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes

Mariano, C.; Antunes, M.; Medeiros, A.M.; Alves, A.C.; Futema, M.; Humphries, S.E.; Bourbon, Mafalda

http://hdl.handle.net/10400.18/5171

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Abstract(s)

Familial hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk. FH is caused by mutations in 3 genes: LDLR, APOB and PCSK9. However in only about 40%-50% of the cases an FH causing mutation is found. The FH phenotype has been associated recently to other monogenic disorders as lysosomal acid lipase deficiency or can have a polygenic origin. The aim of this work was to characterize the origin of FH phenotype in a cohort of patients with a clinical diagnosis of FH.