Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia

Type 1 familial hypobetalipoproteinemia (FHBL1), characterized by low levels of apolipoprotein B (ApoB)-containing lipoproteins, elevation of transaminases, and hepatic steatosis, is a rare disease the prevalence of which is 1 in 3,000 among general population. Here we report an extremely rare famil...

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Autores principales: Sasaki, Kei, Tada, Hayato, Kawashiri, Masa-aki, Ito, Toshimitsu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393375/
https://www.ncbi.nlm.nih.gov/pubmed/36003908
http://dx.doi.org/10.3389/fcvm.2022.942772
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author Sasaki, Kei
Tada, Hayato
Kawashiri, Masa-aki
Ito, Toshimitsu
author_facet Sasaki, Kei
Tada, Hayato
Kawashiri, Masa-aki
Ito, Toshimitsu
author_sort Sasaki, Kei
collection PubMed
description Type 1 familial hypobetalipoproteinemia (FHBL1), characterized by low levels of apolipoprotein B (ApoB)-containing lipoproteins, elevation of transaminases, and hepatic steatosis, is a rare disease the prevalence of which is 1 in 3,000 among general population. Here we report an extremely rare family where phenotypes of familial hypercholesterolemia (FH) are canceled by coexistence of FHBL1 caused by an truncating mutation in apolipoprotein B (APOB).
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spelling pubmed-93933752022-08-23 Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia Sasaki, Kei Tada, Hayato Kawashiri, Masa-aki Ito, Toshimitsu Front Cardiovasc Med Cardiovascular Medicine Type 1 familial hypobetalipoproteinemia (FHBL1), characterized by low levels of apolipoprotein B (ApoB)-containing lipoproteins, elevation of transaminases, and hepatic steatosis, is a rare disease the prevalence of which is 1 in 3,000 among general population. Here we report an extremely rare family where phenotypes of familial hypercholesterolemia (FH) are canceled by coexistence of FHBL1 caused by an truncating mutation in apolipoprotein B (APOB). Frontiers Media S.A. 2022-08-08 /pmc/articles/PMC9393375/ /pubmed/36003908 http://dx.doi.org/10.3389/fcvm.2022.942772 Text en Copyright © 2022 Sasaki, Tada, Kawashiri and Ito. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cardiovascular Medicine
Sasaki, Kei
Tada, Hayato
Kawashiri, Masa-aki
Ito, Toshimitsu
Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia
title Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia
title_full Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia
title_fullStr Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia
title_full_unstemmed Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia
title_short Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia
title_sort case report: unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia
topic Cardiovascular Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393375/
https://www.ncbi.nlm.nih.gov/pubmed/36003908
http://dx.doi.org/10.3389/fcvm.2022.942772
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