Improving Familial Hypercholesterolaemia Diagnosis – Functional in Vitro Analysis of LDLR Missense Variants Found in the Portuguese FH Cohort

Alves, Ana C.; Graça, Rafael; Bourbon, Mafalda

http://hdl.handle.net/10400.18/6357

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Authors

Alves, Ana C.

Graça, Rafael

Bourbon, Mafalda

Abstract(s)

Objective: Familial Hypercholesterolaemia (FH) is an autosomal disorder of lipid metabolism presenting with increased cardiovascular risk due to lifelong exposure to high LDL values. LDLR mutations are the cause of disease in 90% of the cases but proof of pathogenicity has only been obtained for about 10%. The lack of functional characterization of variants found in patients with a clinical diagnosis of FH makes it difficult to reach a definite FH diagnosis.