title: Non-alcoholic steatohepatitis-related cirrhosis in a patient with APOB L343V familial hypobetalipoproteinaemia.
abstract: Familial hypobetalipoproteinaemia (FHBL) is a rare monogenic cause of hypocholesterolaemia. Increased liver transaminase concentrations and hepatic steatosis are a common occurrence in FHBL. Although FHBL subjects are protected against atherosclerotic cardiovascular disease, consequences of fatty liver in FHBL over the longer term are not known. We describe a case in which an obese woman with APOB L343V FHBL developed non-alcoholic steatohepatitis-related cirrhosis of the liver. Given the potential for progression to cirrhosis, it would seem prudent to serially monitor the livers of these individuals using biochemical and imaging techniques, particularly in the presence of known risk factors that lead to further liver injury, such as alcohol and caloric excess.
authors.affiliation: Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia.
authors.forename: Liesl V
authors.initials: LV
authors.lastname: Heeks
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Hooper
authors.forename: Leon A
authors.initials: LA
authors.lastname: Adams
authors.forename: Peter
authors.initials: P
authors.lastname: Robbins
authors.forename: P Hugh R
authors.initials: PH
authors.lastname: Barrett
authors.forename: Frank M
authors.initials: FM
authors.lastname: van Bockxmeer
authors.forename: John R
authors.initials: JR
authors.lastname: Burnett
mesh_terms: D019943:Amino Acid Substitution; D001055:Apolipoproteins B / Q000235:genetics; D005234:Fatty Liver / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D052476:Hypobetalipoproteinemia, Familial, Apolipoprotein B / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008099:Liver / Q000378:metabolism / Q000473:pathology*; D008103:Liver Cirrhosis / Q000209:etiology / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008875:Middle Aged; D009765:Obesity / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology*
chemical_list: D001055:Apolipoproteins B