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BMC Gastroenterology
Published in: BMC Gastroenterology 1/2012

Open Access 01-12-2012 | Case report

Autoimmune hepatitis type 2 associated with an unexpected and transient presence of primary biliary cirrhosis-specific antimitochondrial antibodies: a case study and review of the literature

Authors: Pietro Invernizzi, Maria Grazia Alessio, Daniel S Smyk, Ana Lleo, Aurelio Sonzogni, Luca Fabris, Manila Candusso, Dimitrios P Bogdanos, Raffaele Iorio, Giuliano Torre

Published in: BMC Gastroenterology | Issue 1/2012

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Abstract

Background

Unlike other autoimmune liver diseases, primary biliary cirrhosis (PBC) has never been reported in early childhood, while type 2 autoimmune hepatitis (AIH) is eminently a paediatric disease.

Case presentation

We describe a case of type 2 AIH with serological positivity for PBC-specific anti-mitochondrial antibodies (AMA) in a 3-year old girl. We found this observation intriguing as AMA and indeed an overlap with PBC are virtually absent in Type 2 AIH, a pediatric form of AIH which is distinct precisely because it is characterized by pathognomonic anti-liver kidney microsomal type 1 (LKM-1) showing a remarkable antigen-specificity directed against cytochrome P4502D6. We also review the literature in relation to AMA positivity in paediatric age and adolescence. In our case, the presence of AIH-2-specific anti-LKM-1 and PBC-specific AMA was confirmed by indirect immunofluorescence (IIF), and immunoblotting and ELISA based on recombinant mitochondrial antigens. The clinical, laboratory and histological features of the child are given in detail. Interestingly the mother was AMA positive without other features of PBC. The child was successfully treated with immunosuppression and five years after the original diagnosis is on a low dose of prednisolone and azathioprine, with no signs of relapse. Anti-LKM-1 antibodies are still present in low titres. AMA were detectable for the first 4 years after the diagnosis and disappeared later.

Conclusion

This is the first case report in the literature of AIH type 2 with an unexpected PBC-specific AMA positivity in a young child. Response to immunosuppressive treatment was satisfactory and similar to that described in AIH. A review of published reports on AMA positivity in paediatric age shows that the antibody may arise in the context of immunodeficiency and is variably associated with liver damage.
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Metadata
Title
Autoimmune hepatitis type 2 associated with an unexpected and transient presence of primary biliary cirrhosis-specific antimitochondrial antibodies: a case study and review of the literature
Authors
Pietro Invernizzi
Maria Grazia Alessio
Daniel S Smyk
Ana Lleo
Aurelio Sonzogni
Luca Fabris
Manila Candusso
Dimitrios P Bogdanos
Raffaele Iorio
Giuliano Torre
Publication date
01-12-2012
Publisher
BioMed Central
Published in
BMC Gastroenterology / Issue 1/2012
Electronic ISSN: 1471-230X
DOI
https://doi.org/10.1186/1471-230X-12-92

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