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Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly

Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and... 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 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Pediatric Allergy and Immunology Wiley

Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly

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References (11)

Publisher
Wiley
Copyright
Copyright © 2022 John Wiley & Sons A/S
ISSN
0905-6157
eISSN
1399-3038
DOI
10.1111/pai.13774
Publisher site
See Article on Publisher Site

Abstract

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

Journal

Pediatric Allergy and ImmunologyWiley

Published: Apr 1, 2022

Keywords: cholestasis; familial hemophagocytic lymphohistiocytosis; hemophagocytic lymphohistiocytosis; Munc13‐4; neonatal; UNC13D

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