The Indian Journal of Pediatrics

, Volume 83, Issue 5, pp 434–443 | Cite as

Current Updates on Classification, Diagnosis and Treatment of Hemophagocytic Lymphohistiocytosis (HLH)

  • Manisha MadkaikarEmail author
  • Snehal Shabrish
  • Mukesh Desai
Review Article


Hemophagocytic lymphohistiocytosis (HLH) is a life threatening hyperinflammatory syndrome characterized by excessive activation of macrophages and T cells resulting from defective cytotoxicity. Severe hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and histiocytes (macrophages) secreting high amounts of inflammatory cytokines threatens the life of the patient and may lead to death unless arrested by appropriate treatment. HLH can be caused either by certain underlying genetic diseases (familial HLH), or may also occur due to particular triggers in patients with no known inherited disorder (acquired HLH). Due to life threatening nature of the disease, early diagnosis and initiation of immunosuppressive therapy is extremely important. HLH diagnosis is based on constellation of clinical manifestations and laboratory parameters which often overlap with those of severe infection or sepsis. Identification of patients with familial HLH and their underlying genetic defects requires specialized laboratory tests and is important for predicting relapses and planning early therapeutic hematopoietic stem cell transplantation (HSCT). A high suspicion and thorough clinical, immunological and genetic work-up is required for diagnosis of HLH. Prompt initiation of adequate treatment is essential for the survival. Substantial progress has been made in exploring the complex cause and pathophysiology of HLH and also in management of HLH patients.


Familial HLH (FHL) Hemophagocytic lymphohistiocytosis (HLH) NK cells Pathophysiology 



MM and SS: Conception, literature review and writing of the manuscript. MM and MD: Critically revising and final approval of the manuscript. MM will act as guarantor for the paper.

Compliance with Ethical Standards

Conflict of Interest


Source of Funding

Indian Council of Medical Research (ICMR) and Department of Biotechnology (DBT).


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Copyright information

© Dr. K C Chaudhuri Foundation 2016

Authors and Affiliations

  • Manisha Madkaikar
    • 1
    Email author
  • Snehal Shabrish
    • 1
  • Mukesh Desai
    • 2
  1. 1.Department of Pediatric Immunology and Leukocyte BiologyNational Institute of Immunohematology (ICMR)ParelIndia
  2. 2.Division of ImmunologyBai Jerbai Wadia Hospital for ChildrenMumbaiIndia

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