1115 Hemophagocytic Lymphohistiocytosis in Two Romanian Young Infants

Abstract

Haemophagocytic lymphohistiocytosis (HLH) is a rare disorder of early infancy, resulting from abnormal proliferation of histiocytes in tissues and organs, but potentially fatal disease. Diagnosing this disease may be difficult and is often delayed because the clinical presentation mimics other conditions like severe sepsis, hepatic failure and malignancies. HLH is characterized by fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hyperferritinemia with hemophagocytosis in the bone marrow, spleen or lymph nodes, which represent the diagnostic criteria.

We report two cases of HLH in infants within the first 10 weeks of life. Diagnosis of HLH was made relatively early after symptoms started, one of them - a rare case of primary HLH form (familial form), and other - the secondary form of HLH (associated infection with EBV virus) indicating that not all cases of HLH in very young infants are familial. Both patients had typical presentations with fever, anemia and thrombocytopenia, enlarged liver and spleen, hyperferritinemia, hypertriglyceridemia and hypofibrinogenemia, initially without the finding of hemophagocytosis in bone marrow. Awareness of the clinical symptoms and of the diagnostic criteria of HLH is important to start life-saving therapy with immunosuppressive/immunomodulatory agents in time. Diagnostic must be rapidly made, because the familial form is always fatal without treatment. In the absence of a specific marker, differential diagnosis may be difficult, especially in patients without familial recurrence.

When there is strong clinical suspicion of HLH, chemotherapy and immunosuppressor treatment should be started early.

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