Diagnostic evaluation of patients with suspected haemophagocytic lymphohistiocytosis

Authors

  • Kai Lehmberg,

    1. Department of Paediatric Haematology and Oncology, University Medical Centre, Hamburg, Germany
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  • Stephan Ehl

    Corresponding author
    1. Centre of Chronic Immunodeficiency, University Hospital Freiburg, Freiburg, Germany
    • Department of Paediatric Haematology and Oncology, University Medical Centre, Hamburg, Germany
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Correspondence: Stephan Ehl, Centre of Chronic Immunodeficiency, Breisacher Str. 117, 79106 Freiburg, Germany.

E-mail: stephan.ehl@uniklinik-freiburg.de

Summary

Haemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome characterized by severely disturbed immune homeostasis. It can affect all age groups. Diagnostic evaluation of the patient with suspected HLH has to address three main questions: (i) does the patient have HLH? There is no simple diagnostic test, but a number of clinical and laboratory criteria define this clinical syndrome. (ii) Can a trigger be identified? A variety of infections, malignant or autoimmune diseases can contribute to the disturbed immune homeostasis with important consequences for treatment. (iii) Does the patient suffer from a genetic disease predisposing to HLH? Recent advances in the understanding of the genetic and pathophysiological basis of HLH have enabled a better and more rapid answer to this question, which is relevant for prognosis and the decision to perform haematopoietic stem cell transplantation. This review summarizes the current diagnostic approach to the patient with HLH.

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