FH Phenotype: monogenic, polygenic and other causes

Mariano, C.; Alves, A.C.; Medeiros, A.M.; Chora, J.R.; Futema, M.; Humphries, S.E.; Bourbon, M.

http://hdl.handle.net/10400.18/6437

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Abstract(s)

Familial Hypercholesterolaemia (FH) is a monogenic lipid disorder caused by mutations in LDLR, APOB, and PCSK9 genes. However, 50% of individuals with clinical diagnosis of FH do not have a mutation in one of these three genes, so other causes for their phenotype must exist. The FH phenotype has been associated recently to other monogenic disorders as lysosomal acid lipase deficiency (LALD) and sitosterolaemia or can have a polygenic origin. The aim of this work was to characterize the origin of the FH phenotype in a cohort of patients with clinical diagnosis of FH.