About Familial Hemophagocytic Lymphohistiocytosis
Familial Hemophagocytic Lymphohistiocytosis is a life-threatening hyperinflammatory syndrome caused by autosomal recessive mutations in genes encoding the cytotoxic granule exocytosis pathway, leading to uncontrolled activation of macrophages and T cells that engulf blood cells and infiltrate vital organs. Clinical presentation is dominated by prolonged fever, cytopenias, hyperferritinemia, hypertriglyceridemia, and organomegaly, often triggered by viral infections. Without cytoreductive therapy followed by allogeneic stem cell transplantation, FHL is uniformly fatal.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Familial Hemophagocytic Lymphohistiocytosis trials.
HLH-2004 diagnostic criteria fulfillment (5 of 8 criteria) is typically required for trial entry; prepare bone marrow biopsy results, ferritin levels, NK-cell activity, and soluble CD25 data
Emapalumab and ruxolitinib trials often require failure or intolerance of first-line dexamethasone-etoposide; document treatment history and response precisely
Molecular confirmation of a pathogenic FHL gene variant is required for gene therapy and some transplant conditioning trials; distinguish familial from secondary HLH before applying
Patient Resources
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