Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia

Autor:	Kei Sasaki, Hayato Tada, Masa-aki Kawashiri, Toshimitsu Ito
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	familial hypercholesterolemia familial hypobetalipoproteinemia LDL cholesterol apolipoprotein B PCSK9 Diseases of the circulatory (Cardiovascular) system RC666-701
Zdroj:	Frontiers in Cardiovascular Medicine, Vol 9 (2022)
Druh dokumentu:	article
ISSN:	2297-055X
DOI:	10.3389/fcvm.2022.942772
Popis:	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).
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/a13673965712490aba233fcc370e7a1a Zobrazit plný text záznamu View record in DOAJ