Hemophagocytic lymphohistiocytosis (HLH) is an unusual syndrome characterized by fever, splenomegaly, jaundice, and the pathologic finding of hemophagocytosis (phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors) in bone marrow and other tissues. HLH may be diagnosed in association with malignant, genetic, or autoimmune diseases but is also prominently linke...

A 70-year-old woman with celiac disease presented with weight loss and diarrhea unresponsive to gluten-free diet (GFD) and prednisone. Diagnosis of type 2 refractory celiac disease (RCD) was made by small intestinal biopsies showing severe villous blunting and intraepithelial lymphocytosis. She was diagnosed with hemophagocytic lymphohistiocytic syndrome (HLH) after developing fever, pancytopen...

A 68-year-old man was referred to our hospital due to a high fever and pancytopenia. Neither tumors nor infectious lesions were detected. Hemophagocytosis was observed on the bone marrow (BM) smear, although without abnormal cells. Prednisolone therapy was ineffective for the patient's high fever. Later on, we obtained the results of a BM biopsy indicating the presence of infiltration of atypic...

UNLABELLED Hemophagocytes are cells of the monocyte lineage that have engulfed erythrocytes and leukocytes. Hemophagocytes frequently accumulate in patients with severe acute bacterial infections, such as those caused by Salmonella enterica, Brucella abortus, and Mycobacterium tuberculosis. The relationship between hemophagocytosis and infection is not well understood. In the murine liver, S. e...

Iron overload prior to allogeneic hematopoietic stem cell transplantation (allo-HSCT) due to blood transfusions is associated with increased non-relapse mortality (NRM) and with low overall survival. After allo-HSCT, high iron content in liver biopsies and elevated ferritin concentrations in blood, used as a surrogate parameter for iron overload, are also related to NRM. The cellular and molecu...

Hemophagocytosis represents the peculiar pathological feature of activated macrophages engulfing hematopoietic cells as a result of an immune dysregulatory disorder. This finding is the hallmark of a rare hyperinflammatory disease known as hemo phagocytic ly mphohistiocytosis (HLH). HLH is a severe condition characterized by an abnormal ineffective immune response caused by an uncontrolled acti...

Hemophagocytic syndrome is characterized by fever, fatigue, weight loss, lymphadenopathy, and laboratory abnormalities including pancytopenia, liver dysfunction, hypertriglyceridemia and hyperfibrinemia. Histopathologically, lesions are characterized by mononuclear cell infiltration with marked histiocyte proliferation and phagocytosis of erythrocytes, leukocytes, platelets and their precursors...

A 40-day-old baby girl presented with intermittent fever, lymphadenopathy, massive hepatosplenomegaly, progressive pancytopenia and features of disseminated intravascular coagulopathy. A bone marrow aspiration was performed and showed florid histiocytic proliferation with marked hemophagocytosis. Based on the diagnostic guideline for Hemophagocytic Lymphohistiocytosis proposed by the Familial H...

The hemophagocytic syndrome (HS) is characterized by a clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. HS is considered rare and may be a primary disease or associated to viral, infection, neoplasias or autoimmune diseases. Tr...

Patients A 10-month-old year boy and a 4-month-old-year girl presented with multiple erythematous and indurated noduless on the limbs, and developed high-grade fever and biological features suggestive of MAS several months after the onset of cutaneous disease. Serologic test for EBV was negative and bone marrow examination revealed hemophagocytosis. A homozygous splicing mutation for the UNC13D...