Diagnostic testing for hemophagocytic lymphohistiocytosis
Rebecca A Marsh1, Jack J Bleesing2, Samuel Cern Cher Chiang2
1Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States; Department of Pediatrics, University of Cincinnati, Cincinnati, OH, United States; Pharming Healthcare, Warren, NJ, United States.
Hemophagocytic lymphohistiocytosis (HLH) is a rare clinical syndrome caused by severe systemic hyperinflammation. HLH can be rapidly fatal if unrecognized or inadequately treated. It is important that clinicians are able to utilize diagnostic testing to assess for HLH and determine the underlying causes including possible inborn errors of immunity (IEI). This article summarizes many of the tools available to aid with the diagnostic evaluation of patients with possible HLH and underlying IEI.
Hemophagocytic lymphohistiocytosis (HLH) is a rare clinical syndrome caused by severe systemic hyperinflammation. HLH can be rapidly fatal if unrecognized or inadequately treated. It is important that clinicians are able to utilize diagnostic testing to assess for HLH and determine the underlying causes including possible inborn errors of immunity (IEI). This article summarizes many of the tools available to aid with the diagnostic evaluation of patients with possible HLH and underlying IEI.
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