8/4/19 Case Updates on Diagnosis and Treatment of Hemophagocytic Lymphohistiocytosis • 16+ y/o boy Intermittent fever for 10 days • In community hospital • Abdominal echogram: mild splenomegaly • Hepatitis survey: negative Tsung-Yen Chang, M.D Division of Pediatric Hematology/Oncology Linkou Chang Gung Memorial Hospital Sep 2019 Case (cont’) • Bone marrow smear: Hemophagocytosis • EBV DNA PCR: 29267 copies/ml 8/4/19 Case • d/o boy Abdominal distention after birth • In community hospital • PE: hepatosplenomegaly • Hemogram: • WBC: 5300/ul, Hb: 12g/dL, Plt: 14k/ul • Biochemistry: • AST: 58, ALT: 16, Bil D/T: 3/9.3 8/4/19 Case • y/o girl Intermittent fever for days • In community hospital, • Abdominal echogram: hepatosplenomegaly • Hemogram: • WBC: 3200/ul, Plt: 72k/ul • Biochemistry: • AST: 685, ALT: 678, Bil D/T: 2.8/4 8/4/19 2nd relapse 8/4/19 Discussion Introduction of HLH • HLH is characterized by fever and hepatosplenomegaly, CNS symptoms, cytopenias, coagulopathy, and lipid changes • HLH occurs in all age groups • A hallmark of HLH is impaired or absent function of NK cells and cytotoxic T cells • HLH can classified into two distinct forms, primary and secondary HLH Blood Rev 2007;21(5):245-53 Blood 2011;118(15):4041-52 Blood 2011;118(15):4041-52 8/4/19 Familial hemophagocytic lymphohistiocytosis (FHL) • Primary HLH is caused by inborn defects in the primary cytotoxicity effector pathway in lymphocytes and NK cells • Autosomal Recessive, Incidence: 1:50,000 • Median survival is