Complex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB Mutations

Familial Hypercholesterolemia (FH) is a common genetic hypercholesterolemia caused by mutations in LDLR, APOB and PCSK9 that leads to premature atherosclerosis. Other rare disorders like sitosterolemia can present the same phenotype but have distinct therapeutic interventions. We present a case...

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Autores principales:	Ana Cristina Ferreira, Ana Catarina Alves, Ana Margarida Medeiros, Gonçalo Padeira, Mafalda Bourbon
Formato:	article
Lenguaje:	EN PT
Publicado:	Sociedade Portuguesa de Pediatria 2021
Materias:	Pediatrics RJ1-570 Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/1e7ca78b4c0c49638b433fbca55718e1
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spelling	oai:doaj.org-article:1e7ca78b4c0c49638b433fbca55718e12021-11-04T15:21:15ZComplex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB Mutations2184-33332184-4453https://doaj.org/article/1e7ca78b4c0c49638b433fbca55718e12021-11-01T00:00:00Zhttps://pjp.spp.pt/article/view/23815https://doaj.org/toc/2184-3333https://doaj.org/toc/2184-4453 Familial Hypercholesterolemia (FH) is a common genetic hypercholesterolemia caused by mutations in LDLR, APOB and PCSK9 that leads to premature atherosclerosis. Other rare disorders like sitosterolemia can present the same phenotype but have distinct therapeutic interventions. We present a case of severe hypercholesterolemia in a 5-year-old child found to have both FH and sitosterolemia. The proband was diagnosed initially as FH, but the lack of pathogenic variants with Sanger approach questioned this hypothesis. High levels of sitosterol established the diagnosis of sitosterolemia, genetically confirmed by an ABCG8 homozygous variant c.1974C>G/p.(Tyr658*). NGS re-sequence for FH genes revealed an APOB heterozygous functional variant (c.11477C>T/p.(Thr3826Met), in a region previously unstudied. The mother presented the same genotype. Control of LDL-C levels was only accomplished with dietary and therapeutic intervention for both sitosterolemia and FH. The correct diagnosis of dyslipidemia is important to establish proper dietary and pharmacological intervention for atherosclerosis prevention. Ana Cristina FerreiraAna Catarina AlvesAna Margarida MedeirosGonçalo PadeiraMafalda BourbonSociedade Portuguesa de PediatriaarticlePediatricsRJ1-570Medicine (General)R5-920ENPTPortuguese Journal of Pediatrics , Vol 52, Iss 4 (2021)
institution	DOAJ
collection	DOAJ
language	EN PT
topic	Pediatrics RJ1-570 Medicine (General) R5-920
spellingShingle	Pediatrics RJ1-570 Medicine (General) R5-920 Ana Cristina Ferreira Ana Catarina Alves Ana Margarida Medeiros Gonçalo Padeira Mafalda Bourbon Complex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB Mutations
description	Familial Hypercholesterolemia (FH) is a common genetic hypercholesterolemia caused by mutations in LDLR, APOB and PCSK9 that leads to premature atherosclerosis. Other rare disorders like sitosterolemia can present the same phenotype but have distinct therapeutic interventions. We present a case of severe hypercholesterolemia in a 5-year-old child found to have both FH and sitosterolemia. The proband was diagnosed initially as FH, but the lack of pathogenic variants with Sanger approach questioned this hypothesis. High levels of sitosterol established the diagnosis of sitosterolemia, genetically confirmed by an ABCG8 homozygous variant c.1974C>G/p.(Tyr658*). NGS re-sequence for FH genes revealed an APOB heterozygous functional variant (c.11477C>T/p.(Thr3826Met), in a region previously unstudied. The mother presented the same genotype. Control of LDL-C levels was only accomplished with dietary and therapeutic intervention for both sitosterolemia and FH. The correct diagnosis of dyslipidemia is important to establish proper dietary and pharmacological intervention for atherosclerosis prevention.
format	article
author	Ana Cristina Ferreira Ana Catarina Alves Ana Margarida Medeiros Gonçalo Padeira Mafalda Bourbon
author_facet	Ana Cristina Ferreira Ana Catarina Alves Ana Margarida Medeiros Gonçalo Padeira Mafalda Bourbon
author_sort	Ana Cristina Ferreira
title	Complex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB Mutations
title_short	Complex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB Mutations
title_full	Complex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB Mutations
title_fullStr	Complex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB Mutations
title_full_unstemmed	Complex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB Mutations
title_sort	complex phenotype of hypercholesterolemia in a family with both abcg8 and apob mutations
publisher	Sociedade Portuguesa de Pediatria
publishDate	2021
url	https://doaj.org/article/1e7ca78b4c0c49638b433fbca55718e1
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Complex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB Mutations

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