Immunosuppression: Preliminary results of alternative maintenance therapy for familial hemophagocytic lymphohistiocytosis (FHL)

Hemophagocytic lymphohistiocytosis (HLH) describes a group of disorders with similar clinical features that are associated with a very high mortality rate. Patients with HLH, and particularly the infantile form referred to as familial hemophagocytic lymphohistiocytosis (FHL), are often treated with multiple courses of epipodophyllotoxins, such as etoposide, for prolonged periods of time. Because of the concern regarding the risk of epipodophyllotoxin-induced acute myelogenous leukemia (AML) we have explored the use of immunosuppression as maintenance therapy for patients with FHL while they await the only known definitive treatment, i.e., bone marrow transplantation (BMT). We report 2 infants with FHL who had significant central nervous system involvement at diagnosis. Both were initially treated with etoposide, methotrexate, and glucocorticosteroids. Once clinical improvement was achieved these patients were successfully maintained in clinical remission of FHL on daily cyclosporine A (CSA) and glucocorticosteroids along with intermittent intrathecal methotrexate for 5 months until appropriate unrelated donors could be identified for BMT.