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Publicação
Genomics of familial hypercholesterolaemia
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Orientador(es)
Resumo(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. (...)
Descrição
Editorial
Palavras-chave
Ester Storage Disease Apo-B mutations Identification Diagnosis Variants STAP1 Familial hypercholesterolaemia Doenças Cardio e Cérebro-vasculares Hpercolesterolemia Familiar
Contexto Educativo
Citação
Curr Opin Lipidol. 2019 Apr;30(2):148-150. doi: 10.1097/MOL.0000000000000584.
Editora
Wolters Kluwer Health