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Clinical features, diagnosis and therapy of familial haemophagocytic lymphohistiocytosis
Author(s) -
Janka Gritta E.,
Aricò Maurizio
Publication year - 2021
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.15889
Subject(s) - medicine , etoposide , immune system , hemophagocytic lymphohistiocytosis , immunology , disease , haematopoiesis , hematopoietic stem cell transplantation , cytotoxic t cell , stem cell , chemotherapy , biochemistry , chemistry , biology , in vitro , genetics
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.