Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Erythropoietic hypoplasia occurring in the absence of abnormalities in the leukopoietic and thrombocytopoietic series is often defined as "pure red cell aplasia" (PRCA). This condition may appear as an acquired defect of either acute or chronic type, and a congenital form as well. The chronic form of acquired PRCA occurred mostly in adults. It has been reported that a demonstrable thymoma occurred in more than 50% of patients with PRCA. Recent studies suggested that it may contribute to several immune mechanisms. Here we report a case of thymoma with PRCA whose clinical presentations include severe anemia, shock with severe metabolic acidosis, high levels of several organ enzymes (SGOT, SGPT, LDH, CPK, Amylase) and acute renal shutdown with similar manifestations to septic shock. Our explanation to his condition is multi-organ tissue hypoxia caused by severe anemia. Hemophagocytic syndrome was found by the repeated bone marrow smear before death. The clinical course of this patient was so impressive as to be presented here for discussion.
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PMID:[Thymoma with pure red cell aplasia and hemophagocytic syndrome--one case report]. 184 51

Hemophagocytic syndrome (HPS) presents with fever, pancytopenia, liver dysfunction and increase in hemophagocytic histiocytes in various organs. Although there are two major classifications of HPS in adults, malignant and reactive histiocytosis, it is often very difficult to distinguish between these disorders. We analyzed the laboratory data of patients with HPS to evaluate prognostic factors. Of 34 patients, 14 survived, and 20 died. The median age of survivors was 29.6+/-11.5 yr significantly younger than those who died (54.7+/-17.8 yr). Twenty patients had no obvious underlying disease, the other 13 had hematological malignancies or viral infections. Comparison of laboratory data revealed that nonsurvivors had significantly lower Hb and platelet values on admission. During treatment, worsening of anemia and thrombocytopenia, increase of transaminase and biliary enzymes were similarly more prominent. Risk factors associated with death were: age over 30 yr, presence of disseminated intravascular coagulation, increased ferritin and beta2-microglobulin, anemia accompanied by thrombocytopenia and jaundice. Our data suggests that patients with HPS and any of these risk factors should be treated aggressively with sufficient chemotherapy and supportive care.
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PMID:Prognostic factors of hemophagocytic syndrome in adults: analysis of 34 cases. 933 23

Hemophagocytic lymphohistiocytosis (HLH), also referred to as familial erythrophagocytic lymphohistiocytosis, is a rare disorder of infancy associated with proliferation of activated histiocytes and T cells, anemia, thrombocytopenia, and fevers. This disorder appears to be due to the uncontrolled activation of T cells producing IL-2, tumor necrosis factor-alpha, and interferon-gamma. Untreated, the disorder is universally fatal. Various deficits in immune function have been described during acute disease activity including impaired T cell function, impaired monocyte-mediated antibody-dependent cytotoxicity, impaired natural killer cell function, and impaired IL-1 production. We examined natural killer cell function in familial HLH patients to determine whether this finding was consistently associated with the disease. We also examined natural killer cell function in asymptomatic parents and siblings of patients. Impaired natural killer cell function was identified in all patients and in some family members, including obligate carrier parents. This implies that one potential genetic defect in HLH may result in depressed natural killer function, but that this may not be sufficient to reliably predict eventual progression to disease.
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PMID:Defective natural killer cell function in patients with hemophagocytic lymphohistiocytosis and in first degree relatives. 977 32

Haemophagocytic syndrome (HPS) is a fulminant, often fatal, systemic illness that occurs in association with infection and malignancy. We provide the first report of HPS that heralded a primary effusion lymphoma (PEL), a rare neoplasm linked to Kaposi's sarcoma-associated herpesvirus. The patient was a 38-year-old man with acquired immunodeficiency syndrome who presented with fever, sweats, lymphadenopathy, splenomegaly and refractory anaemia. Examination of the spleen demonstrated haemophagocytosis; analysis of ascites revealed PEL. Treatment with chemotherapy and ganciclovir resulted in complete remission of both conditions. This case illustrates the diagnostic challenges posed by HPS and supports the trial of antiviral agents in combination with chemotherapy in patients with PEL.
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PMID:Novel association of haemophagocytic syndrome with Kaposi's sarcoma-associated herpesvirus-related primary effusion lymphoma. 1116 49

Hemophagocytic syndrome (HPS) is characterized by the activation of the mononuclear phagocytic system with prominent hemophagocytosis in the bone marrow and reticuloendothelial systems, and its occurrence is usually associated with variable disorders such as viral infections and malignant lymphoma. Recently, it was reported that HPS also occurred in association with underlying connective tissue disease, especially systemic lupus erythematosus. We report here a case of recurrent HPS complicated with systemic sclerosis. A 32-year-old woman had been diagnosed as systemic sclerosis since 1994. She was admitted due to unknown high fever and severe pancytopenia in 1997, and the diagnosis of HPS was determined because of hemophagocytosis in bone marrow and hyperferritinemia. Her symptoms were improved by immunosuppressive therapies including steroid pulse therapy and oral prednisolone (60 mg/day). She was followed by the treatment of oral prednisolone which was gradually tapered in our out-patient clinic. In August of 1999 high fever and severe anemia were recurred, and she was admitted again to our hospital because of the diagnosis as recurrent HPS. She had been treated with 40 mg/day of oral prednisolone and fever was immediately disappeared and hemoglobin was gradually increased. HPS is considered to be a rare complication with systemic sclerosis, and the etiology has been unknown. IL-18 is a novel cytokine which is a potent inducer of interferon-gamma, and its properties may be a proinflammatory regulation and activation of monocyte/macrophage and histiocyte through the expression of interferon-gamma. Therefore, the significance of IL-18 in the pathophysiology of HPS was recently reported. In this case, we investigated the significance of IL-18 and revealed the levels of serum IL-18 were well correlated with disease activity of HPS.
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PMID:[A case of recurrent hemophagocytic syndrome complicated with systemic sclerosis: relationship between disease activity and serum level of IL-18]. 1150 16

A 5-month-old male presented with fever, hepatosplenomegaly, leukocytosis with atypical lymphoblasts, anemia and thrombocytopenia. Severe combined imunodeficiency syndrome (T-, B+, NK+), B lymphoproliferative disease and hemophagocytic lymphohistiocytosis triggered by Epstein-Barr virus (EBV) were diagnosed. As his clinical situation deteriorated rapidly, BMT was performed with unmanipulated marrow stem cells from his EBV-positive HLA-identical sister after conditioning with dexamethasone (1.75 mg/kg/day), cyclophosphamide (114 mg/kg) and etoposide (10 mg/kg), with no immunosuppression given post transplant. Engraftment occurred on day 6 with explosive proliferation of donor CD8(+) T cells. The patient died 3 days later from acute respiratory distress syndrome. Autopsy revealed full donor engraftment and no signs of hemophagocytic lymphohistiocytosis or B lymphoproliferative disease. Thus, transplanted T cells can expand very rapidly within days after BMT and clear EBV lymphoproliferative disease and hemophagocytic lymphohistiocytosis.
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PMID:Allogeneic bone marrow transplantation for active Epstein-Barr virus-related lymphoproliferative disease and hemophagocytic lymphohistiocytosis in an infant with severe combined immunodeficiency syndrome. 1196 Feb 73

OBJECTIVE: To describe an often-unrecognized clinical picture of multiple organ failure in hemophagocytic lymphohistiocytic syndrome (HLS). DESIGN: Retrospective chart review. SETTING: A ten-bed pediatric intensive care unit (PICU) in a tertiary children's university hospital. PATIENTS: A total of 11 children (age, 5 months to 13 yrs) who fulfilled the criteria for the diagnosis of familial- or infectious-associated hemophagocytic lymphohistiocytosis and who required intensive care support for organ failure. INTERVENTION: None. MAIN RESULTS: During a 10-yr period, 5,439 children were hospitalized in our PICU. A total of 11 children were diagnosed as suffering with HLS. Of these 11 patients, three (27%) had the familial form and eight had the infectious-associated form. After admission to the PICU, seven patients (63%) were diagnosed as suffering with HLS and each had one or more organ failures (patients 3-7, 9, and 10). All presented with fever, hepatomegaly, and splenomegaly; in addition, all had at least two of the following: anemia, neutropenia, or thrombocytopenia. All 11 had lymphohistiocytic accumulation in bone marrow (n = 10), lymph node (n = 2), lung (n = 2), and/or liver (n = 1). Organ failure was noted most often in the respiratory system (n = 7) attributable to severe, acute respiratory distress syndrome and pleural effusion. Of the 11 patients, six had cardiovascular involvement that manifested as shock in three and as capillary leak syndrome in three. Renal failure occurred in four patients. Of these, two required hemodiafiltration and one required peritoneal dialysis. Liver failure occurred in three and central nervous system involvement and coma in three. Most of the patients required massive therapeutic intervention, including assisted ventilation (n = 6), inotropic support (n = 3), and hemofiltration (n = 3). A total of seven patients (63%) died. CONCLUSIONS: Hemophagocytic lymphohistiocytic syndrome in the pediatric population may have a dramatic clinical picture, with multiple organ failure as a presenting symptom or early in the disease course, mandating intensive support in the PICU.
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PMID:Hemophagocytic lymphohistiocytic syndrome: Unrecognized cause of multiple organ failure. 1281 87

An association exists among neurofibromatosis 1 (NF1), juvenile xanthogranulomas (JXGs), and juvenile myelomonocytic leukemia (JMML). The authors describe a patient with the triple association of JXG, NF1, and JMML initially presenting with features of hemophagocytic lymphohistiocytosis (HLH). An 18-month old boy had multiple cutaneous and gastrointestinal JXG and NF1. At 3 years of age he developed anemia, thrombocytopenia, and hepatosplenomegaly. A bone marrow biopsy revealed features of HLH. Despite chemotherapy, he went on to develop JMML, which proved fatal.
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PMID:Juvenile myelomonocytic leukemia presenting with features of hemophagocytic lymphohistiocytosis in association with neurofibromatosis and juvenile xanthogranulomas. 1534 87

Hemophagocytic syndrome (HPS) is characterized by an uncontrolled and poorly understood activation of T-helper 1 (Th-1) lymphocytes and macrophages. We studied 20 patients with HPS secondary to infections, autoimmune disease, lymphoma, or cancer and observed that the concentrations of serum interleukin 18 (IL-18), a strong inducer of Th-1 responses, interferon gamma (IFN-gamma) production, and stimulation of macrophages and natural killer (NK) cells were highly increased in HPS but not in control patients. In contrast, concentrations of its natural inhibitor, the IL-18 binding protein (IL-18BP), were only moderately elevated, resulting in a high level of biologically active free IL-18 in HPS (4.6-fold increase compared with controls; P < .001). Free IL-18 but not IL-12 concentrations significantly correlated with clinical status and the biologic markers of HPS such as anemia (P < .001), hypertriglyceridemia, and hyperferritinemia (P < .01) and also with markers of Th-1 lymphocyte or macrophage activation, such as elevated concentrations of IFN-gamma and soluble IL-2 and tumor necrosis factor alpha (TNF-alpha) receptor concentrations. Despite high IL-18 elevation, in vitro NK-cell cytotoxicity was severely impaired in HPS patients, in part due to NK-cell lymphopenia that was observed in a majority of patients but also secondary to an intrinsic NK-cell functional deficiency. We concluded that a severe IL-18/IL-18BP imbalance results in Th-1 lymphocyte and macrophage activation, which escapes control by NK-cell cytotoxicity and may allow for secondary HPS in patients with underlying diseases.
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PMID:Severe imbalance of IL-18/IL-18BP in patients with secondary hemophagocytic syndrome. 1602 May 3

We report a case of juvenile xanthogranuloma (JXG) having progressive pancytopenia for 6 months until the proliferating skin lesions. A 2-month-old infant presented recurrent fever, anemia, and hepatosplenomegaly mimicking hemophagocytic lymphohistiocytosis (HLH) or juvenile myelomonocytic leukemia (JMML). At 8 months of age, the biopsy of a growing papule on the elbow made the diagnosis. Bone marrow (BM) specimens showed clustering foamy cells including hemophagocytosis by histiocytes. Treatment with etoposide followed by vinblastine plus prednisolone (PSL) therapy improved the disease. Although JXG is a benign non-Langerhans cell histiocytosis, the multisystem-visceral form should be considered as a potential aggressive disease when associated with BM failure in early infancy.
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PMID:Prolonged severe pancytopenia preceding the cutaneous lesions of juvenile xanthogranuloma. 1604 46


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