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 response leads to severe hyperinflammation. Clinical laboratory features are characteristic, unspecific; thus awareness FHL important for early diagnosis. rapidly fatal without treatment. Standard-of-care therapy etoposide corticosteroids, followed by haematopoietic stem cell transplantation (HSCT). Conclusion has become a curable disease present Additional cytokine-directed still prove its value. Earlier HSCT less toxic conditioning regimens will lead improved cure rates.