Genomics of familial hypercholesterolaemia

Alves, Ana C.; Chora, Joana R.; Bourbon, Mafalda

http://hdl.handle.net/10400.18/6514

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Authors

Alves, Ana C.

Chora, Joana R.

Bourbon, Mafalda

Abstract(s)

Familial hypercholesterolaemia is an autosomal dominant disorder of lipid metabolism characterized by elevated levels of LDL-C and increased cardiovascular risk. Although the disorder can be diagnosed based on established clinical criteria, only the genetic diagnosis confirms the clinical suspicion. There are three main genes associated with familial hypercholesterolaemia: LDL receptor (LDLR), responsible for more than 90% of the cases, apolipoprotein B (APOB), responsible for 5–10% of the cases and Proprotein Convertase Subtilisin/ Kexin Type 9 (PCSK9), responsible for up to 3% of the cases. However, reporting of situations where there is an overlap of the familial hypercholesterolaemia phenotype and other conditions is now growing. (...)

Description

Editorial

Keywords

Ester Storage Disease Apo-B mutations Identification Diagnosis Variants STAP1 Familial hypercholesterolaemia Doenças Cardio e Cérebro-vasculares Hpercolesterolemia Familiar