Encyclopedia of Pathology

Living Edition
| Editors: J.H.J.M. van Krieken

Hemophagocytic Syndrome

  • J. Han van KriekenEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-3-319-28845-1_3850-1



Hemophagocytic syndrome is a life-threatening condition in which activation of T-lymphocytes and macrophages results in a hyperinflammatory state and pancytopenia with characteristic phagocytosis of hematopoietic cells. There are primary or familial forms, due to mutations in, among others, the perforin gene, familial hemophagocytosis (more often referred to as familial hemophagocytic syndrome), and secondary forms associated with a variety of infections, immune diseases, or neoplasms.

Clinical Features


Hemophagocytic syndrome is a very rare disease, approximately 1.2 per million, but may go unrecognized due to its rapid progression and similarities with sepsis.


Familial forms present most often in infants in the first year of life, but also in children that are older; rare cases...

This is a preview of subscription content, log in to check access.

References and Further Reading

  1. Brisse, E., Wouters, C. H., & Matthys, P. (2016). Advances in the pathogenesis of primary and secondary haemophagocytic lymphohistiocytosis: Differences and similarities. British Journal of Haematology, 174, 203–217.CrossRefGoogle Scholar
  2. Emile, J. F., Abla, O., Fraitag, S., Horne, A., Haroche, J., Donadieu, J., Requena-Caballero, L., Jordan, M. B., Abdel-Wahab, O., Allen, C. E., Charlotte, F., Diamond, E. L., Egeler, R. M., Fischer, A., Herrera, J. G., Henter, J. I., Janku, F., Merad, M., Picarsic, J., Rodriguez-Galindo, C., Rollins, B. J., Tazi, A., Vassallo, R., Weiss, L. M., & Histiocyte Society. (2016). Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood, 127, 2672–2681.CrossRefGoogle Scholar
  3. Otrock, Z. K., Daver, N., Kantarjian, H. M., & Eby, C. S. (2017). Diagnostic challenges of hemophagocytic lymphohistiocytosis. Clinical Lymphoma, Myeloma & Leukemia, 17S, S105–S110.CrossRefGoogle Scholar
  4. Ramachandran, S., Zaidi, F., Aggarwal, A., & Gera, R. (2017). Recent advances in diagnostic and therapeutic guidelines for primary and secondary hemophagocytic lymphohistiocytosis. Blood Cells, Molecules & Diseases, 64, 53–57.CrossRefGoogle Scholar
  5. Rosado, F. G., & Kim, A. S. (2013). Hemophagocytic lymphohistiocytosis: An update on diagnosis and pathogenesis. American Journal of Clinical Pathology, 139, 713–727.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of PathologyRadboudUMCNijmegenthe Netherlands