Clinical features, diagnosis and therapy of familial haemophagocytic lymphohistiocytosis

Familial haemophagocytic lymphohistiocytosis (FHL) is an inherited immune deficiency with defective cytotoxicity of natural killer cells and cytotoxic T lymphocytes. A highly stimulated, but ineffective immune response leads to severe hyperinflammation. Clinical and laboratory features are character...

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Bibliographic Details
Published inActa Paediatrica Vol. 110; no. 10; pp. 2723 - 2728
Main Authors Janka, Gritta E., Aricò, Maurizio
Format Journal Article
LanguageEnglish
Published Norway Wiley Subscription Services, Inc 01.10.2021
Subjects
Corticosteroids
Cytokines
Cytotoxicity
Diagnosis
Etoposide
haematopoietic stem cell transplantation
haemophagocytic lymphohistiocytosis
Hematopoietic stem cells
immune deficiency
Immune response
lymphocyte cytotoxicity
Lymphocytes T
Natural killer cells
Stem cell transplantation
haemophagocytic lymphohistiocytosis
immune deficiency
cytokines
lymphocyte cytotoxicity
haematopoietic stem cell transplantation
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Summary:Familial haemophagocytic lymphohistiocytosis (FHL) is an inherited immune deficiency with defective cytotoxicity of natural killer cells and cytotoxic T lymphocytes. A highly stimulated, but ineffective immune response leads to severe hyperinflammation. Clinical and laboratory features are characteristic, but unspecific; thus awareness of FHL is important for early diagnosis. FHL is rapidly fatal without treatment. Standard‐of‐care therapy is etoposide and corticosteroids, followed by haematopoietic stem cell transplantation (HSCT). Conclusion FHL has become a curable disease with present treatment. Additional cytokine‐directed therapy still has to prove its value. Earlier HSCT and less toxic conditioning regimens will lead to improved cure rates.
Bibliography:Funding information
This study did not receive any specific funding.
ISSN:0803-5253
1651-2227
DOI:10.1111/apa.15889