Familial hemophagocytic lymphohostiocytosis: a report of two sporadic cases

We report two sporadic cases of familial hemophagocytic lymphohistiocytosis (FHL). One case is a 2-month-old female and another is a 4-month old female. Both patients admitted due to hepatosplenomegaly, fever, and bleeding tendency. Laboratory data showed pancytopenia, hypoproteinemia, hepatic damage, and hemophagocytosis in the bone marrow. The value of serum triglyceride was elevated initialy and normalized with treatment. One patient was induced to complete remission (CR) with the treatment of VP16, cyclophosphamide, and prednisolon. Another patient failed to be induced to CR by the same treatment, but responded to CHOP-regimen (CPM, ADR, VCR, Pred) and remained in CR for 3 months. She relapsed systemicaly and then the disease could not be controlled completely. FHL is often indistinguishable from IAH (infection associated histiocytosis) especially if the patient is an infant and has no apparent familial histories. Most of the cases of IAH, the outcomes are good with the administration of steroids and/or therapy for DIC. On the other hand, FHL is a disease of which almost all cases result in rapid death if aggressive treatments are not applied immediately. Thus we think the cytotoxic agents, such as VP16 and CPM, should be administered as initial treatment if the patient is an infant and the condition is indistiguishable from IAH.