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)

Clinical, laboratory, and histological findings in FHL of diagnostic importance were intermittent fever, hepatosplenomegaly, peripheral blood cytopenia, hypertriglyceridemia, hypofibrinogenemia, and a lymphohistiocytic accumulation with hemophagocytosis in the mononuclear phagocytic system. Fine-needle aspiration biopsy from the spleen appeared to be a useful method for revealing hemophagocytosis. The treatment of induction and relapses, as well as the maintenance therapy, included administration of teniposide, etoposide, and corticosteroids. The regimen had to be individualized for each child since the clinical course was highly variable. Half of the children given successful induction therapy (3/6) are still alive with over a 3-year survival after diagnosis.
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PMID:Familial hemophagocytic lymphohistiocytosis. Clinical review based on the findings in seven children. 203 21

This rare fatal disease of infants and early childhood occurred in seven children from four families. Six children died during 2-4 weeks from the beginning of disease, the last one has survived two years with cytostatic treatment. The disease was characterized by intermittent fever, hepatosplenomegaly and progressive pancytopenia as well as hyperbilirubinemia, hyperlipemia and hypofibrinogenemia. In addition to substantial enlargement of the liver and spleen prevailing autoptic findings were infectious complications due to severe immune defect or signs of hemorrhagic diathesis. Lymphocytes and histiocytes phagocytizing blood cells were increased in bone marrow, liver, spleen, often brain and further organs. Problems of differential diagnosis and pathogenesis were discussed.
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PMID:[Familial hemophagocytic lymphohistiocytosis]. 235 Aug 12

A case of familial hemophagocytic limphohistiocytosis (FHLH) is presented in a 16 months old infant, with clinical picture of prolonged fever, cutaneous purpura, generalized lymphadenopathy and progressive hepatosplenomegaly and laboratory of severe pancytopenia, hypofibrinogenemia and hypertriglyceridemia, with elevation of the pre-beta fraction in the lipidogram, all this compatible with this disease. She also showed bone marrow and ganglionar biopsy infiltrated by histiocytic cells with hemophagocytosis. The patient received chemotherapy with cycles VP-16, vincristine (VCR) and intrathecal methotrexate (MTX), alternating every two-three weeks with VACP, during one year, with resolution of clinical and laboratory parameters after two months of this treatment without relapses. The survival from diagnosis is 39 months.
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PMID:[Familial hemophagocytic lymphohistiocytosis: survival of a case treated by polychemotherapy]. 236 5

Fourteen children, 4 males and 10 females, with malignant histiocytosis (MH) were treated between July 1980 and June 1986. None of them had an affected sibling with a similar disorder. Septic-type fever was the most prominent symptom in all cases. Hepatosplenomegaly was present in 13 cases, lymphadenopathy, skin rash and jaundice in 8, pulmonary infiltration or pleural effusion on chest X-ray in 8, convulsion in 6, and renal involvement in 5 out of the 14 cases. Disseminated intravascular coagulation (DIC) was seen in 13 cases and this occurred within two weeks from onset in 6 cases. Pancytopenia, abnormal results of liver function tests, hypofibrinogenemia and hypocholesterolemia were common. The diagnosis was made for all 14 cases by characteristic clinical symptoms, signs, and bone marrow findings. In 8 cases, biopsy or autopsy specimens confirmed the diagnosis. Two patients died prior to chemotherapy. Twelve patients were treated with adriamycin, cyclophosphamide, vincristine and prednisone (ACOP). Complete response (CR) was achieved in five patients, and another two patients attained CR after subsequent treatment with other combinations including VP 16-213. These 7 complete responders are now alive and free of disease 11+ to 70+ months (median, 50+ months) from the onset of disease. All partial and non-responders died within 6 months with a median survival of 20 days. Among several clinical features as prognostic indicators, renal involvement, convulsion, and DIC occurring within 2 weeks were significantly related to poor outcome. Although MH is an aggressive disease with a poor prognosis, prompt diagnosis and early treatment with intensive systemic combination chemotherapy should further improve the outcome.
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PMID:[Clinical features and therapeutic results in 14 cases of malignant histiocytosis in childhood]. 380 Apr 4

Familial hemophagocytic lymphohistiocytosis (FHL) is probably a genetically transmitted disease affecting infants and very young children. Cardinal symptoms are fever, hepatosplenomegaly, and pancytopenia. Frequently meningeal involvement is seen, manifested by neurologic symptoms and a lymphohistiocytic pleocytosis with increased protein levels in the cerebrospinal fluid. Characteristic laboratory findings in FHL are hypertriglyceridemia and hypofibrinogenemia, which are reversible with treatment. The disease has been rapidly fatal in most patients, but recently longterm remissions have been achieved with cytotoxic agents. Pathohistologic examination shows a widespread infiltrate of lymphocytes and mature macrophages with prominent hemophagocytosis affecting especially liver, spleen, lymph nodes and the central nervous system. Atrophy of the lymphatic tissue is a common finding. From the histologic picture FHL has to be grouped among the histiocytoses of reactive origin since the cells involved show no signs of malignancy. The etiology and pathogenesis of FHL are not known at present. Immunologic studies present evidence for a disturbed function of T lymphocytes, but a secondary immune defect seems to be more likely than primary immune deficiency. Among the broad clinical spectrum of histiocytic disorders especially histiocytic reactions due to infection, histiocytosis X and malignant histiocytosis have to be considered in the differential diagnosis of FHL.
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PMID:Familial hemophagocytic lymphohistiocytosis. 635 20

Clinical course and histopathologic features of a typical case of familial hemophagocytic lymphohistiocytosis (FHLH) are presented. FHLH, initially known as familial hemophagocytic reticulosis (FHR), is rare and without proper treatment is invariably rapidly fatal, usually accompanied by fever, anorexia, vomiting, irritability and pallor. Sporadic examples with prolonged survival have been reported. Other significant findings include hepatosplenomegaly, progressive anemia, leukopenia, thrombocytopenia, hyperlipidemia and hypofibrinogenemia. Varying degrees of hemophagocytosis by widely disseminated histiocytes in different organs and structures is one hallmark of the disease. Hemophagocytosis may also occur in viral and bacterial infections and in certain malignant processes. Very high parental consanguinity in FHLH was mentioned in two relatively recent reports. A probable immunologic defect has been the focus of recent investigations. The genetic defect is believed to be transmitted as an autosomal recessive trait.
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PMID:Familial hemophagocytic lymphohistiocytosis (FHLH). 909 88

The biological activity of blood coagulation factors II, V, VII, VIII, IX, X, XI and XII, fibrinogen and prekallikrein was assessed in 15 healthy subjects and 60 patients with endemic Egyptian hepatosplenomegaly. The degree of liver disease was graded according to the Child-Pugh classification, the intensity of S. mansoni infection was monitored by determination of circulating schistosome immune complexes (CSIC) level using a monoclonal antibody and hemostasis activation was detected by measurement of hemostatic markers D-dimer and prothrombin fragment 1 + 2 (F1+2). Functional activity of antithrombin III, alpha2-antiplasmin and protein C as well as quantitative determination of plasma concentrations of alpha1-antitrypsin, C1 activator inhibitor and alpha2-macroglobulin were also carried out. The progressive deterioration of liver function which matched the severity of the disease and the intensity of schistosomal infection led to a reduction in anticoagulant proteins (decreases in antithrombin III and protein C) resulting in hypercoagulability and thrombin generation (increased F1+2) subsequently followed by consumption (prolongation of coagulation screening tests, thrombocytopenia, hypofibrinogenemia and decreased factor VIII resulting in hypocoagulability and secondary fibrinolysis (increased D-dimer and decreased alpha2-antiplasmin). A significant decline in fibrinogen and factors VII, XII and prekallikrein was detected in bleeders compared with ascitic patients. The decline in factor XII was closely related to CSIC high titers in all disease groups, but was not correlated to D-dimer or F1+2 concentrations. This suggests that circulating schistosome immune complexes may exert an inhibitory effect on contact factor XII which should be taken into account when considering the reasons for schistosomal coagulopathy and bleeding in hepatosplenic schistosomiasis.
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PMID:The coagulation profile in hepatosplenic schistosomiasis. 962 18

A diagnosis of familial hemophagocytic lymphohistiocytosis (FHL) was established in an 18-month-old boy who presented with prolonged fever of unknown origin, severe pancytopenia, hepatosplenomegaly and hypofibrinogenemia. Serum levels of ferritin and soluble interleukin-2 receptor (SIL2R) were highly elevated, and the number of natural killer (NK) cells was markedly decreased. An allogeneic stem cell donor was neither found in the family nor in unrelated donor registries; however, an umbilical cord blood (UCB) donor request revealed a 5/6 HLA-matched UCB. After conditioning with busulphan 16 mg/kg body weight (BW), cyclophosphamide 120 mg/kg BW and etoposide (VP-16) 900 mg/m2 the patient received 19.6 x 10(7)UCB nucleated cells/kg BW. White blood count (WBC) reached 1.0 x 10(9)/l on day +45. Chimerism studies showed full and permanent hematopoietic and lymphopoietic engraftment on day +16. However despite full engraftment the patient still experienced two severe relapses of his disease after stem cell transplantation with the highest ferritin level in the range of 10 3967 microg/l (n = 7-142). NK cell function appeared only 6 months after UCB transplantation followed by a decrease of FHL markers and resolution of disease activity. This clinical outcome indicates that unless competent immunologic engraftment after transplantation is established, FHL is capable of relapsing even if complete three-lineage engraftment is achieved.
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PMID:Unrelated 5/6-locus matched umbilical cord blood transplantation in a 23-month-old child with hemophagocytic lymphohistiocytosis. 972 76

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

Infection-associated hemophagocytic syndrome (IAHS) is a form of the reactive hemophagocytic syndrome. IAHS is associated with viral, bacterial, fungal, mycobacterial, rickettsial and protozoal infections and with various malignant neoplasms. A more accurate designation for this acquired form of the syndrome is reactive hemophagocytic syndrome (HS). Reactive HS is characterized by malaise, fever, hepatosplenomegaly, lymphadenopathy, cytopenia, hypertriglyceridemia, hypofibrinogenemia and hemophagocytosis. Cyclosporin A, VP-16, high-dose steroids, and intravenous immunoglobulin (IVIG) have been used in the treatment of IAHS. Here, a 10-year-old girl with reactive HS due to possible viral infection was treated successfully with cyclosporin A and IVIG. Fever disappeared on the third day, complete blood count reached normal levels on the sixth day and hepatosplenomegaly disappeared on the ninth day after treatment. We believe cyclosporin A and IVIG may be used in the treatment of reactive HS, at least in selected patients. Further studies are required to confirm its role as first-line therapy for children with IAHS.
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PMID:Successful treatment of reactive hemophagocytic syndrome with cyclosporin A and intravenous immunoglobulin. 1093 88


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