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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Detalles Bibliográficos
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
Descripción
Sumario: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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