The occurrence and treatment of hemophagocytic lymphohistiocytosis caused by multiple factors: a case report and literature review

Hemophagocytic lymphohistiocytosis (HLH) is a high-fatality disease caused by hereditary or acquired immune dysfunction, and characterized pathological inflammatory response. Primary HLH (pHLH) has genetic defects, secondary (sHLH) variety of underlying diseases. Here, we report the case patient with aggressive natural killer cell leukemia HLH-related gene defects who achieved long-term survival after treatment. A 20-year-old man presented to our hospital symptoms fever fatigue. Investigations revealed splenomegaly, cytopenia, hyperferritinemia, hypofibrinogenemia, elevated levels soluble CD25 (sCD25), hemophagocytosis in bone marrow. Bone marrow flow cytometry showed 23.4% abnormal cells, cells were CD2, CD7, CD16, CD94, NKG2A positive, met diagnosis NK-Cell leukemia. Investigation patient's pedigree that mutations pHLH-related genes (LYST UNC13D) inherited from his father mother, but neither parents had disease. The received hematopoietic stem-cell transplantation (HSCT), which he complete remission. As 2020-10-19, exceeded 3 years, returned normal life. factors contribute onset HLH, this gives greater insight into etiology HLH. Allogeneic HSCT key treatment for patients mutations.