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

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Abstract

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.

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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.

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  1. Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohematology (ICMR), 13th floor, Multistoreyed Building, KEM Campus, Parel, Mumbai, 400 012, India

    Manisha Madkaikar & Snehal Shabrish

  2. Division of Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India

    Mukesh Desai

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  1. Manisha Madkaikar
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Correspondence to Manisha Madkaikar.

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Madkaikar, M., Shabrish, S. & Desai, M. Current Updates on Classification, Diagnosis and Treatment of Hemophagocytic Lymphohistiocytosis (HLH). Indian J Pediatr 83, 434–443 (2016). https://doi.org/10.1007/s12098-016-2037-y

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