NON-ALCOHOLIC FATTY LIVER DISEASE ASSOCIATED WITH HYPOBETALIPOPROTEINEMIA: REPORT OF THREE CASES AND A NOVEL MUTATION IN APOB GENE

Authors

  • Joana Rodrigues Pediatric Department, Centro Hospitalar Entre o Douro e Vouga
  • Ana Azevedo Pediatric Department, Centro Hospitalar Entre o Douro e Vouga
  • Susana Tavares Pediatric Department, Centro Hospitalar Entre o Douro e Vouga
  • Cristina Rocha Pediatric Department, Centro Hospitalar Entre o Douro e Vouga
  • Ermelinda Santos Silva Pediatric Gastroenterology Departament, Centro Materno-Infantil do Norte, Centro Hospitalar do Porto

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v25.i2.9524

Keywords:

APOB gene, Children, Familial hypobetalipoproteinemia, Non-alcoholic fatty liver disease, Nonalcoholic steatohepatitis

Abstract

Background: Non-alcoholic fatty liver disease, the leading cause of chronic liver disease in children, is defined by hepatic fat infiltration >5% of hepatocytes, in the absence of excessive alcohol intake, evidence of viral, autoimmune or drug-induced liver disease. Conditions like rare genetic disorders must be considered in the differential diagnosis.

Case Report: Two male brothers, and a non-related girl, all overweight, had liver steatosis. One of the brothers and the girl had elevated transaminases; all three presented with low total cholesterol, low density lipoproteins and very low density lipoproteins cholesterol levels, hypotriglyceridemia and low apolipoprotein B. A liver biopsy performed in the brother with citolysis confirmed steatohepatitis and the molecular study of apolipoprotein B gene showed a novel homozygous mutation (c.9353dup p.Asn3118Lysfs17). Patients with cytolysis lost weight, however liver steatosis persists.

Conclusion: Fatty liver disease might be a consequence of hypobetalipoproteinemia. Evidence is scarce due to low number of reported cases.

Downloads

References

Kneeman JM, Misdraji J, Corey KE (2012). Secondary causes

of non-alcoholic fatty liver disease. Therap Adv Gastroenterol.

; 5:199 - 207. doi:10.1177/1756283X11430859.

Vajro P, Lenta S, Socha P, Dhawan A, McKiernan P, Baumann

U, et al (2012). Diagnosis of nonalcoholic fatty liver disease

in children and adolescents: position paper of the ESPGHAN

Hepatology Committee. J Pediatr Gastroenterol Nutr. 2012;

:700-713 doi:10.1097/MPG.0b013e318252a13f.

Labrecque DR, Abbas Z, Anania F, Ferenci P, Khan AG,

Goh KL, et al (2014). World Gastroenterology Organisation

Global Guidelines Nonalcoholic Fatty Liver Disease and

Nonalcoholic Steatohepatitis. J Clin Gastroenterol. 2014;

:467-473 doi:10.1097/MCG.0000000000000116.

Giorgio V, Prono F, Graziano F, Nobili V (2013) Pediatric

non alcoholic fatty liver disease: old and new concepts

on development, progression, metabolic insight and

potential treatment targets. BMC Pediatr. 2013; 13:40

doi:10.1186/1471-2431-13-40.

Sen D, Dagdelen S, Erbas T (2007) Hepatosteatosis with

hypobetalipoproteinemia. J Natl Med Assoc. 2007; 99:284-6.

Lam MCW, Singham J, Hegele RA, Riazy M, Hiob MA, Francis

G, et al (2012). Familial hypobetalipoproteinemia-induced

nonalcoholic steatohepatitis. Case Rep Gastroenterol 6:429-

doi:000339761.

Schonfeld G (2003) Familial hypobetalipoproteinemia: a

review. J Lipid Res. 2003; 44:878-883 doi:10.1194/jlr.

R300002-JLR200.

Lee J, Hegele R (2014) Abetalipoproteinemia and

homozygous hypobetalipoproteinemia: a framework for

diagnosis and management. J. Inherit. Metab. Dis. 2014; 37:

-339 doi: 10.1007/s10545-013-9665-4.

Whitfield A, Barrett P, Bockxmeer F, Burnett J (2004)

Lipid Disorders and Mutations in the APOB gene. Clinical

Chemistry. 2004; 50: 1725-32.

Noto D, Cefalu AB, Barraco G, Fayer F, Minà M, Yue P,

et al (2011). Plasma non-cholesterol sterols in primary

hypobetalipoproteinemia. Atherosclerosis. 2011; 216:409-

doi:10.1016/j.atherosclerosis.2010.10.050.

Alvarez F, Berg PA, Bianchi FB, Bianchi L, Burroughs AK,

Cancado EL, et al (1999). International Autoimmune Hepatitis

Group Report: review of criteria for diagnosis of autoimmune

hepatitis. J Hepatol. 1999; 31: 929-38.

EASL Clinical Practice Guidelines: Wilson’s disease (2012) J

Hepatol. 2012; 56:671-685 doi:10.1016/j.jhep.2011.11.007.

Wu J, Kim J, Li Q, Kwok PY, Cole TG, Cefalu B, et al (1999).

Known mutations of apoB account for only a small minority

of hypobetalipoproteinemia. J Lipid Res. 1999; 40:955-9.

Gutierrez-Cirlos C, Ordonez-Sanchez ML, Tusie-Luna MT,

Patterson BW, Schonfeld G, Aguilar-Salinas CA (2011)

Familial hypobetalipoproteinemia in a hospital survey:

genetics, metabolism and non-alcoholic fatty liver disease.

Ann Hepatol. 2011; 10:155-164.

Downloads

Published

2016-06-21

How to Cite

1.
Rodrigues J, Azevedo A, Tavares S, Rocha C, Silva ES. NON-ALCOHOLIC FATTY LIVER DISEASE ASSOCIATED WITH HYPOBETALIPOPROTEINEMIA: REPORT OF THREE CASES AND A NOVEL MUTATION IN APOB GENE. REVNEC [Internet]. 2016Jun.21 [cited 2025Apr.22];25(2):104-7. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/9524

Issue

Vol. 25 No. 2 (2016)

Section

Case Reports

License

Copyright and Authors' Rights

All articles published in Nascer e Crescer - Birth and Growth Medical Journal are Open Access and comply with the requirements of funding agencies or academic institutions. For use by third parties, Nascer e Crescer - Birth and Growth Medical Journal adheres to the terms of the Creative Commons License "Attribution - Non-Commercial Use (CC-BY-NC)".

It is the author's responsibility to obtain permission to reproduce figures, tables, etc. from other publications.

Authors must submit a Conflict of Interest statement and an Authorship Form with the submission of the article. An e-mail will be sent to the corresponding author confirming receipt of the manuscript.

Authors are permitted to make their articles available in repositories at their home institutions, provided that they always indicate where the articles were published and adhere to the terms of the Creative Commons license.

Most read articles by the same author(s)

<< < 1 2