Sitosterolaemia: a case of rare hypercholesterolaemia in FH patient’s cohort

Alves, Ana Catarina; Medeiros, Ana; Padeira, Gonçalo; Ferreira, Ana Cristina; Bourbon, Mafalda

http://hdl.handle.net/10400.18/4813

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Authors

Alves, Ana Catarina

Medeiros, Ana

Padeira, Gonçalo

Ferreira, Ana Cristina

Bourbon, Mafalda

Abstract(s)

Aims: Familial Hyperpercholesterolaemia (FH) is the most common of all genetic hypercholesterolaemias. However there are other rare disorders presenting the same phenotype (phenocopies). Sitosterolaemia is one of those rare recessive disorders in which patients can present high levels of LDL-C but, most importantly, they present vegetal fat accumulation in tendons and arteries, leading also to increased cardiovascular risk. The defect in this case is in transporter genes responsible for the intestinal and biliary transport of plant sterols (ABCG5/ABCG8). AIMS: to identify the genetic cause of hypercholesterolaemia in a clinical FH patient presenting a severe phenotype.