A patient with Chronic Granulomatous Disease (CGD) may be at risk for episodes resembling Hemophagocytic Lymphohistiocytosis (HLH).
Pathogenesis: prolonged and dysregulated inflammation resulting in unrestrained inflammation caused by T cells and macrophages.
Trigger: bacterial or fungal infection
Clinical features:
(1) high fever
(2) systemic inflammatory response syndrome (SIRS)
(3) hepatosplenomegaly
(4) hematophagocytosis in bone marrow and other organs
Laboratory findings:
(1) one or more cytopenias
(2) hyperferritinemia > 500 µg/L
(3) elevated soluble IL-2R (CD25)
(4) hypofibrinogenemia
Differential diagnosis:
(1) sepsis
It is important to treat the infection aggressively to remove the trigger for the reaction.
