Skip to main content

Advertisement

Log in

Hemophagocytic lymphohistiocytosis in a young child

  • Clinicopathological Conference
  • Published:
Indian Pediatrics Aims and scope Submit manuscript

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a multisystem disorder mediated by cytokine storm and is characterized by fever, pancytopenia and organomegaly coupled with laboratory features like hyperferritinemia, hypertriglyceridemia, hypofibrinogenemia and transaminitis. Etiology can be genetic or acquired such as infections, malignancy and autoimmune disorders. Diagnosis, identification of underlying etiology and management of HLH remain tough clinical puzzles to sort out for the managing physician. We report a clinicopathological conference of a three-year-old boy who had such a presentation and succumbed during the hospital stay.

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

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Janka G. Hemophagocytic lymphohistiocytosis: A serious challenge for every physician. Rev Clin Esp. 2014;214: 318–9.

    Article  CAS  PubMed  Google Scholar 

  2. Allen CE, Yu X, Kozinetz CA, McClain KL. Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2008;50:1227–35.

    Article  PubMed  Google Scholar 

  3. Bode SF, Lehmberg K, Maul-Pavicic A, Vraetz T, Janka G, Stadt UZ, et al. Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis. Arthritis Res Ther. 2012;14:213.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Janka G. Hemophagocytic lymphohistiocytosis: when the immune system runs amok. Klin Padiatr. 2009;221:278–85.

    Article  CAS  PubMed  Google Scholar 

  5. Vastert SJ, Prakken BJ. Paediatric rheumatic disease: Diagnosing macrophage activation syndrome in systemic JIA. Nat Rev Rheumatol. 2014;10:640–2.

    Article  PubMed  Google Scholar 

  6. Lehmberg K, Pink I, Eulenburg C, Beutel K, Maul-Pavicic A, Janka G. Differentiating macrophage activation syndrome in systemic juvenile idiopathic arthritis from other forms of hemophagocytic lymphohistiocytosis. J Pediatr. 2013;162:1245–51.

    Article  CAS  PubMed  Google Scholar 

  7. Faitelson Y, Grunebaum E. Hemophagocytic lymphohistiocytosis and primary immune deficiency disorders. Clin Immunol. 2014;155:118–25.

    Article  CAS  PubMed  Google Scholar 

  8. Liu R, Shi X, Li J, Hu T, Cao J, Sun Y, et al. [Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in Chinese children: a primary study on clinical characteristics and gene mutations]. Zhonghua Yi Xue Za Zhi. 2014;94:1941–6.

    CAS  PubMed  Google Scholar 

  9. Rigante D, De Rosa G, Bertoni B, Ansuini V, Pardeo M, La Torraca I, et al. Large pericardial effusion requiring pericardiocentesis as cardinal sign of macrophage activation syndrome in systemic onset-juvenile idiopathic arthritis. Rheumatol Int. 2007;27:767–70.

    Article  PubMed  Google Scholar 

  10. Nagayama Y, Yoshimura A, Iwasaki S. Cytokine nephropathy in a patient with fatal Epstein-Barr virusassociated hemophagocytic syndrome. Ren Fail. 2013;35:1445–8.

    Article  PubMed  Google Scholar 

  11. Bryan AR, Wu EY. Complement deficiencies in systemic lupus erythematosus. Curr Allergy Asthma Rep. 2014;14:448.

    Article  PubMed  Google Scholar 

  12. Henter JI, Arico M, Egeler RM, Elinder G, Favara BE, Filipovich AH, et al. HLH-94: a treatment protocol for hemophagocytic lymphohistiocytosis. HLH study Group of the Histiocyte Society. Med Pediatr Oncol. 1997;28:342–7.

    Article  CAS  Google Scholar 

  13. Ravelli A, Grom AA, Behrens EM, Cron RQ. Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: Diagnosis, genetics, pathophysiology and treatment. Genes Immun. 2012;13:289–98.

    Article  CAS  PubMed  Google Scholar 

  14. Henter JI, Horne A, Arico M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48:124–31.

    Article  PubMed  Google Scholar 

  15. Rosado FG, Kim AS. Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis. Am J Clin Pathol. 2013;139:713–27.

    Article  CAS  PubMed  Google Scholar 

  16. Ost A, Nilsson-Ardnor S, Henter JI. Autopsy findings in 27 children with haemophagocytic lymphohistiocytosis. Histopathology. 1998;32:310–6.

    Article  CAS  PubMed  Google Scholar 

  17. Cetica V, Sieni E, Pende D, Danesino C, De Fusco C, Locatelli F, et al. Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry. J Allergy Clin Immunol. 2016;137:188–96.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Ishii E, Ohga S, Imashuku S, Yasukawa M, Tsuda H, Miura I, et al. Nationwide survey of hemophagocytic lymphohistiocytosis in Japan. Int J Hematol. 2007;86:58–65.

    Article  PubMed  Google Scholar 

  19. Janka G, zur Stadt U. Familial and acquired hemophagocytic lymphohistiocytosis. Hematology Am Soc Hematol Educ Program. 2005:82–8.

    Google Scholar 

  20. Minoia F, Davi S, Horne A, Demirkaya E, Bovis F, Li C, et al. Clinical features, treatment, and outcome of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a multinational, multicenter study of 362 patients. Arthritis Rheumatol. 2014;66:3160–9.

    Article  PubMed  Google Scholar 

  21. Schulert GS, Grom AA. Pathogenesis of macrophage activation syndrome and potential for cytokine-directed therapies. Annu Rev Med. 2015;66:145–59.

    Article  CAS  PubMed  Google Scholar 

  22. Dao AT, Luong VT, Nguyen TT, Huynh QT, Phan TT, Lam MT, et al. Risk factors for early fatal outcomes among children with hemophagocytic lymphohistiocytosis (HLH): a single-institution case-series in Vietnam. Pediatr Hematol Oncol. 2014;31:271–81.

    Article  PubMed  Google Scholar 

  23. Trottestam H, Horne A, Arico M, Egeler RM, Filipovich AH, Gadner H, et al. Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood. 2011;118:4577–84.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  24. Sung L, Weitzman SS, Petric M, King SM. The role of infections in primary hemophagocytic lymphohistiocytosis: a case series and review of the literature. Clin Infect Dis. 2001;33:1644–8.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Anju Gupta.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Saikia, U.N., Gupta, A., Vignesh, P. et al. Hemophagocytic lymphohistiocytosis in a young child. Indian Pediatr 53, 505–511 (2016). https://doi.org/10.1007/s13312-016-0880-6

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s13312-016-0880-6

Keywords

Navigation