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Pediatric Hemophagocytic Lymphohistiocytosis (HLH).Blood
To the Editor,Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory condition caused by excessive release of pro‐inflammatory cytokines, typically resulting in fever, cytopenia, and hepatosplenomegaly.1 HLH can be life‐threatening due to rapid progression to multi‐organ failure. Delay in diagnosis and treatment of HLH has been shown to adversely affect survival.1 There are several forms of HLH. The term primary HLH is used when there is a genetic predisposition, including familial HLH (FHL) types 1–5 and several pigmentary syndromes and other primary immunodeficiency disorders. Secondary HLH occurs in the context of infections, malignancies, rheumatic diseases, or metabolic disorders, in the absence of a genetic defect.1 Primary and secondary HLH are clinically indistinguishable, and initial treatment (HLH‐1994/2004 protocol) is aimed at damping the cytokine storm. However, timely recognition of the underlying etiology is important for subsequent management choices. In particular, the only curative treatment for primary HLH is allogeneic hematopoietic stem cell transplantation (HSCT).1 Despite the progress made in this field, the diagnosis of HLH remains challenging and current diagnostic criteria insufficiently cover the diverse clinical manifestations. The latter is especially true for neonates. We here report an infant with an initial presentation of neonatal cholestasis, splenomegaly and transient thrombocytopenia, and a delayed
Pediatric Allergy and Immunology – Wiley
Published: Apr 1, 2022
Keywords: cholestasis; familial hemophagocytic lymphohistiocytosis; hemophagocytic lymphohistiocytosis; Munc13‐4; neonatal; UNC13D
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