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: Liesl V Heeks, Amanda J Hooper, Leon A Adams, Peter Robbins, P Hugh R Barrett, Frank M van Bockxmeer, John R Burnett
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 421 Pg. 121-5 (Jun 05 2013) ISSN: 1873-3492 [Electronic] Netherlands
• PMID: 23694813 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Crown Copyright © 2013. Published by Elsevier B.V. All rights reserved.

Chemical References

• Apolipoproteins B

Topics

• Amino Acid Substitution
• Apolipoproteins B (genetics)
• Fatty Liver (complications, genetics, metabolism, pathology)
• Female
• Heterozygote
• Humans
• Hypobetalipoproteinemia, Familial, Apolipoprotein B (complications, genetics, metabolism, pathology)
• Liver (metabolism, pathology)
• Liver Cirrhosis (etiology, genetics, metabolism, pathology)
• Middle Aged
• Obesity (complications, genetics, metabolism, pathology)