Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three infants suffering from hepatosplenomegaly, pancytopenia, hyperlipidemia, low fibrinogen levels and fever are reported. Two patients died during the first year of life, the third one received allogenic bone transplantation and survives. Clinical and haematological features are consistent with diagnosis of hemophagocytic lymphohistiocytosis.
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PMID:[Erythrohemophagocytic lymphohistiocytosis. A clinical report of 3 cases]. 802

The familial form of hemophagocytic lymphohistiocytosis (HLH) is an inherited disease with disturbed immunomodulation and characterized by fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, and coagulopathy, i.e., findings which are similar to many of the reported biological effects of the inflammatory cytokines. Due to the previously shown hypercytokinemia in active HLH with elevated levels of interleukin (IL)-6, tumor necrosis factor-alpha, and interferon-gamma, it has been suggested that cytokine dysregulation may be of pathophysiological importance. Here we have assayed the serum levels of the members of the IL-1 ligand family, the two agonists IL-1 alpha and IL-1 beta and the antagonist IL-1 receptor antagonist (IL-1ra), in nine children with HLH and cerebrospinal fluid (CSF) specimens from four children. Serum IL-1ra was elevated in all patients with active disease to a degree which correlated well with disease activity. Furthermore, the levels decreased day by day during treatment of a patient who suffered a relapse. Moreover, high levels of IL-1ra were also detected in CSF during active disease. However, IL-1 beta levels were all within normal limits and circulating IL-1 alpha levels were normal in all but two patients.
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PMID:Elevated circulating levels of interleukin-1 receptor antagonist but not IL-1 agonists in hemophagocytic lymphohistiocytosis. 861 86

Hemophagocytic syndromes are the clinicobiological translation of an unconnected macrophagic activity with hemophagocytosis. Their physiopathology is related with a deregulation of the T lymphocytes and an excessive production of cytokines. Acquired hemophagocytic syndromes are mostly associated with underlying pathology which they can reveal: immunodeficiency, infections (mostly of viral origin), hemopathies and cancers, auto-immune diseases. The main clinicobiological features are fever, hepatosplenomegaly and peripheric bicytopeny. In the majority of cases, the diagnosis is confirmed by a myelogram which shows the presence of benign histiocytes, actively phagocyting the hematopoietic cells. The pejorative prognosis of hemophagocytic syndromes (actual mortality rate 30 to 45%) requires an early therapy which associates etiological treatment of the underlying affection with pathogenic treatment (pulse of corticosteroids, immunoglobulins, immunosuppressors, or plasmapheresis).
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PMID:[Hemophagocytic syndromes]. 878 89

A lymph node biopsy sample from a boy aged with fever, pneumonia, hepatosplenomegaly, lymphadenopathy and pancytopenia, showed histiocytosis with erythrophagocytosis, compatible with the haemophagocytic syndrome. Treatment consisted of dexamethasone and etoposide, with cyclosporine added in a later phase. During the subsequent remission phase, bone marrow transplantation was carried out. Haemophagocytic syndrome is a rare condition, characterized by fever, pancytopenia, hepatosplenomegaly and characteristic laboratory findings (including a high interferon-gamma level) and morbid-anatomical findings (haemophagocytic histiocytic cells in bone marrow, lymph nodes, liver and spleen, but also in the CNS, kidneys and lungs). Recent pathophysiological discoveries indicate an enhanced T-cell response, leading to hypercytokinaemia. As a rule the patient dies from multiorgan failure and diffuse intravascular coagulation. Bone marrow transplantation is the treatment of choice.
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PMID:[Hemophagocytic syndrome]. 955 Jul 48

Hemophagocytic lymphohistiocytosis represents a spectrum of pathogenetically different diseases including the rapidly fatal autosomal recessive disease of familial hemophagocytic lymphohistiocytosis (FHL). The onset is usually during the first years of life with fever, cytopenia, and hepatosplenomegaly. Neurologic symptoms may supervene. Similar symptoms may occur in the infection-(virus-)associated or malignancy-associated hemophagocytic syndromes (IAHS/MAHS). Triggering infections can be found in all these diseases and do not allow for reliable differentiation. An international treatment protocol (HLH-94) has been developed for FHL, but immunomodulatory treatment may be justified in IAHS and MAHS as well, since they also have a high fatality rate.
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PMID:Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis. 956 10

Hemophagocytic lymphohistiocytosis (HLH) is a rare disease of infancy and young childhood. The clinical presentation includes recurrent unexplained fever with hepatosplenomegaly. Cytopenia, hypofibrinogenemia and/or hypertriglyceridemia and hemophagocytosis in bone marrow, spleen and lymphnode confirm the diagnosis. Hemophagocytosis may not be present at the beginning. In these cases, diagnosis is facilitated by a positive family history, a relapsing course of the disease, the frequent involvement of the central nervous system and positive findings on immunological work-up. Treatment by chemotherapy and immunosuppressants can achieve sustained remissions in most patients and reinduction of remission after relapse is possible. Most children however, eventually die from progressive disease. At present, allogeneic bone marrow transplantation is the only curative therapeutic option. Between August 1992 and May 1997 eleven consecutive patients with HLH received bone marrow from unrelated (n = 7) or matched sibling donors (n = 4). The conditioning regimen consisted of busulfan, VP-16 and cyclophosphamide. Patients engrafted after a median time of 16 days (13-43). Only one patient developed grade III acute GVHD, another patient, grade II acute GVHD. Although regimen-related toxicity was extensive, all patients have survived without signs of HLH after a median follow up of 20 months (8-63). One patient suffers from chronic GVHD, three patients reveal psychomotoric retardation and one patient has severe impairment with spastic tetraparesis, amaurosis and seizures. Our experience shows that HLH can be successfully treated by allogeneic BMT from unrelated donors.
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PMID:[Treatment of hemophagocytic lymphohistiocytosis, HLH, with bone marrow transplantation]. 974 50

Hemophagocytic syndrome (HPS) is a reactive process that complicates several diseases including hematological neoplasias (HN). It has been suggested that HPS may be a negative prognosis factor for neoplastic diseases. In this retrospective analysis, 13 cases with HPS associated to HN were compared with two age, sex, diagnosis, disease stage and treatment matched controls in order to determine the impact of this syndrome on the survival. Cases with HPS were adult patients with a male:female ratio of 1:1 and their clinical picture was characterized by fever, lymphadenopathy, hepatosplenomegaly, and pancytopenia. Median survival since HN diagnosis was 7 and 48 months for the HPS and control groups, respectively (P = 0.0001). In ten patients who died, median survival after HPS presentation was 1 month. These results suggest that the presence of HPS is a negative prognosis factor in patients with HN. Due to its high mortality rate, an individualized, early, and intensive chemotherapeutic regimen may be required for HN complicated with this syndrome.
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PMID:Hemophagocytic syndrome associated with hematological neoplasias. 976 49

Bone marrow hemophagocytosis may occur as an incidental finding, or it may be a manifestation of a systemic and potentially lethal disorder. When systemic, the proliferation is termed hemophagocytic lymphohistiocytosis (HLH), a clinicopathologic entity characterized by a widespread proliferation of benign hemophagocytic histiocytes, fever, pancytopenia, deranged liver function, and frequently coagulopathy and hepatosplenomegaly. A variety of infectious agents, including Epstein-Barr virus (EBV), cytomegalovirus (CMV), human herpesvirus 6 (HHV6), and parvovirus B19 (PVB19), have been associated with HLH, but the relative frequency of each using one technique has not been evaluated. In addition, infectious causes of incidental bone marrow hemophagocytosis, not occurring in the setting of HLH, have not been evaluated. Review of bone marrow reports from bone marrow examinations done between December 1986 and June 1997 showed that 20 children aged 2 months to 15 years had bone marrow examinations that indicated hemophagocytosis. Archival materials from 19 patients were successfully retrieved, and DNA was extracted from archived unstained coverslips with subsequent polymerase chain reaction for EBV, CMV, HHV6, and PVB19 genomic DNA. DNA extracted from 16 bone marrow specimens of age-matched children was used as negative controls. Eleven of the 19 patients fulfilled the clinical and pathological criteria for HLH; the remaining eight patients had isolated hemophagocytosis without a systemic presentation. Viral DNA was detected in 8 of 11 patients with HLH but in none of eight patients with isolated hemophagocytosis. EBV was present in five of the bone marrows, followed in frequency by HHV6, CMV, and PVB19. Infection with more than one agent was present in three patients. Only one control patient was positive for HHV6 DNA; the remaining control patients were negative for all viruses. Viral infection, detected by PCR analysis of bone marrow, is a common finding in patients with HLH but not in patients with isolated bone marrow hemophagocytosis. This technique may provide another marker to aid in the diagnosis of HLH and suggests a different cause of hemophagocytosis occurring in patients with and without HLH.
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PMID:Polymerase chain reaction amplification of archival material for Epstein-Barr virus, cytomegalovirus, human herpesvirus 6, and parvovirus B19 in children with bone marrow hemophagocytosis. 978 44

Haemophagocytic syndrome is a systemic clinicopathological entity characterized by systemic proliferation of benign haemophagocytic histiocytes, fever, cytopenia, abnormal liver function and, frequently, coagulopathy and hepatosplenomegaly. Its occurrence has been documented in association with viral, bacterial, fungal and parasitic infections, a wide spectrum of malignant neoplasms, autoimmune diseases and drugs. We report a case of rubella virus-associated haemophagocytic syndrome in a previously healthy 29-year-old woman. Blood tests showed cytopenia, especially severe thrombocytopenia, liver dysfunction, hyperferritinaemia and hypercytokinaemia. Bone marrow examination showed many mature histiocytes with active haemophagocytosis. A skin biopsy from the rash revealed perivascular lymphohistiocytic infiltrates with haemophagocytic histiocytes in the upper and mid-dermis. The patient was treated with antibiotics and immunoglobulin, and by supportive measures including platelet transfusion, and recovered completely.
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PMID:Virus-associated haemophagocytic syndrome caused by rubella in an adult. 989 58

Two patients with hemophagocytic lymphohistiocytosis who presented with acute liver failure are reported. Both presented with fever, hepatosplenomegaly, markedly elevated liver function tests, abnormal coagulation profiles, and an increase in serum ferritin. Both infants were diagnosed with neonatal hemochromatosis based on a clinical picture of hepatic insufficiency with hyperferritinemia and were referred for liver transplantation. The first patient died of liver failure and septicemia before transplantation. Review of autopsy material revealed a hepatitis-like pattern and extensive infiltration of liver and other organs including bone marrow by histiocytes, some of which were hemophagocytic. The second patient underwent liver transplantation but died 44 days thereafter from progressive hemophagocytic lymphohistiocytosis. Examination of the resected liver demonstrated a hepatitis-like pattern, proliferation of histiocytes, and hemophagocytosis, and the bone marrow revealed hemophagocytic histiocytosis. Hemophagocytosis recurred in the allograft. Hepatic manifestations are common in hemophagocytic lymphohistiocytosis and overt hepatic failure may occur, but initial presentation as fulminant hepatic failure is not well recognized. Elevated serum ferritin can make the distinction from neonatal hemochromatosis and other forms of neonatal liver failure difficult. Hemophagocytic lymphohistiocytosis should be considered in the differential diagnosis of neonatal liver disease, especially when it is accompanied by cytopenias.
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PMID:Hemophagocytic syndrome presenting as acute hepatic failure in two infants: clinical overlap with neonatal hemochromatosis. 1034 80


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