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Method: Herein we report six Iranian patients as a case series with primary HLH and their outcome from a single tertiary-care center Between 2000 -2012.
Results: Griscelli syndrome type 2 (GS2) was diagnosed in 3 patients based on clinical, laboratory, and microscopic features of partial albinism and finding of RAB27Amutations in 2 patients tested. Two patients were on the HLH-2004 continuation therapy and waiting for HSCT, but no matched donor yet: The first case is in 2nd remission after 1.5 years; he had history of relapse in maintenance phase of HLH-2004 protocol which more immunosuppressive treatment was advised. The second case is in remission after 1 year. Two other patients died, while waiting for a suitable donor: case 3 had history of recurrent HLH and died after 6 months; and the case 4 had history of progression to T-cell ALL after 2 years and dead due to relapse of ALL, sepsis and DIC despite chemotherapy after 3 years. Two patients underwent HSCT; patient 5 had a HLA-identical sibling donor and patient 6 had a cord blood-, unrelated, one antigen mismatched donor. Both patients were treated according to the HLH-2004 treatment protocol and none had active disease at the time of HSCT. Patient 5 who were diagnosed with GS2 responded well and remained in remission through 24 months of follow-up, while another case died because of graft-versus-host disease and infection on day 136 after HSCT.
Conclusion: HSCT seems to be the only curative treatment for primary HLH which drastically improve survival of the patients. Making a definite diagnosis confirmed by gene mutation studies is helpful to provide genetic counseling and prenatal diagnosis and, more important, dictate the need for HSCT later in the patient’s course.
Key words: Hematopoeitic stem cell transplantation; Hemophagocytic lymphohistiocytosis; Familial HLH; Griscelli syndrome type 2