Biomedical Research

Background: Hemophagocytic syndrome (HPS) is a syndrome of excessive immune activation characterized by various clinical symptoms of extreme inflammation. Epstein-Barr virus (EBV) is the most frequent infection associated with HPS, often referred to as virus-associated HPS. EBV-HPS is a serious disorder in which monoclonal growth of T cells infected with EBV and activated macrophages cause pancytopenia, high fever and severe liver injury due to primary infection or reactivation of EBV. Methods: A 22-year-old patient presenting with fever, pancytopenia and splenomegaly was diagnosed with hemophagocytic syndrome (HPS) associated with chronic Epstein-Barr virus (EBV) infection. The patient had been ill for more than one year and was more sensitive to glucocorticoid therapy. However, after tapering off the hormone therapy, the patient relapsed. Results: In view of the long-term glucocorticoid therapy of the patient, glucocorticoid-related side effects may have occurred. Therefore, intermittent VP-16 chemotherapy was given, and the glucocorticoid was reduced gradually to discontinuation. The patient, his brother and his parents had mutations in the HPS related genes. There was the same HPS gene mutation in the patient and his father (the variation c.4863-4 G>A (heterozygosity) in the introns around the LYST gene), and the same HPS gene mutation in the elder brother and mother (missense mutation c.603 G>T (p.Leu 201phe heterozygosity) in the Exon8 of STXBP2 gene). Therefore, there were no suitable sibling donors for the patient, who awaited an unrelated donor. It is presumed that the secondary HPS may have a genetic background. There have been HPS related gene mutations before symptom onset, and these can induce HPS due to infection and other factors. Conclusion: The detection of hemophagocytic related gene mutations for HPS high-risk populations with chronic EBV infection, tumors and autoimmune diseases can be beneficial in predicting the risk of HPS. STXBP2 gene mutations are common in patients with HPS, while LYST gene mutations are rarely reported. This case report provides some reference for the diagnosis of other patients.

Author(s): Juan Kang, Weiqun Zeng, Yixuan Yang, Peng Hu, Dazhi Zhang, Zhi Zhou, Dachuan Cai, Yu Lei, Hong Ren
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