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Loss of intrahepatic bile ducts: an important feature of familial hemophagocytic lymphohistiocytosis

Virchows Archiv volume 446, pages 619–625 (2005)Cite this article

Abstract

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, fatal disorder of early infancy. We report two siblings with FHL whose symptoms were dominated by hepatic failure. Both presented with sudden-onset fever and hepatosplenomegaly with progressive abnormalities of clinical biochemistry indices of liver function. One died of hepatorenal failure. The other underwent liver transplantation. Autopsy and explant liver displayed portal and periportal infiltrates of T lymphocytes and histiocytes; an activation of the hepatic mononuclear phagocytic system with focal hemophagocytosis; and almost complete loss of interlobular bile ducts. Paucity of bile ducts dominated in a pre-transplant liver biopsy specimen (and transiently obscured the diagnosis of FHL). Disease recurred in the allograft, again with lymphohistiocytic infiltration and destruction of interlobular bile ducts. Consequently the patient underwent haploidentical peripheral stem cell transplantation. This patient is alive 5 years later. Loss of bile ducts may be an important feature of hepatic involvement by FHL.

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Acknowledgements

The support of Dr. Janka and Dr. zur Stadt (Department of Hematology and Oncology, Children’s Hospital, University of Hamburg) is gratefully acknowledged. For their help the authors are grateful to Dr. Tauber, to Dr. Mikuz (Department of Pathology, Medical University Innsbruck) and Dr. Fichtel (Department of Pathology, General Regional Hospital Bozen, Italy).

Author information

Affiliations

  1. Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria

    Klaus Kapelari & Martin Fruehwirth

  2. St. Anna Children’s Hospital, Vienna, Austria

    Andreas Heitger

  3. Department of Transplant Surgery, Medical University Innsbruck, Innsbruck, Austria

    Alfred Königsrainer & Raimund Margreiter

  4. Department of Pediatrics, Academic Teaching Hospital, Feldkirch, Austria

    Burkhard Simma

  5. Department of Pathology, LKH Feldkirch-Academic Teaching Hospital of the Medical University Innsbruck, Carinagasse 47, 6800, Feldkirch, Austria

    Felix Albert Offner

Authors
  1. Klaus Kapelari
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  2. Martin Fruehwirth
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  3. Andreas Heitger
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  4. Alfred Königsrainer
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  5. Raimund Margreiter
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  6. Burkhard Simma
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  7. Felix Albert Offner
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Correspondence to Felix Albert Offner.

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Kapelari, K., Fruehwirth, M., Heitger, A. et al. Loss of intrahepatic bile ducts: an important feature of familial hemophagocytic lymphohistiocytosis. Virchows Arch 446, 619–625 (2005). https://doi.org/10.1007/s00428-005-1238-y

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  • DOI: https://doi.org/10.1007/s00428-005-1238-y

Keywords

  • FHL
  • Hepatic failure
  • Loss of bile ducts