AUTHOR=Sasaki Kei , Tada Hayato , Kawashiri Masa-aki , Ito Toshimitsu 

TITLE=Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=9

YEAR=2022

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2022.942772

DOI=10.3389/fcvm.2022.942772

ISSN=2297-055X

ABSTRACT=<p>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 (<italic>APOB</italic>).</p>