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)

A variant strain of Rauscher leukemia virus (RLV-A) obtained from a transplantable murine monomyelocytic leukemia causes a disease characterized by frank anemia, wasting, hepatosplenomegaly and erythroblastosis. The involvement of platelets in this disease are reported here. The RLV-A induced a severe thrombocytopenia (25 percent of control level) at the terminal stage of disease. This thrombocytopenia was not associated with disseminated intravascular coagulopathy since the prothrombin times were always within normal limits. The partial thromboplastin time was elevated in the terminal stages of disease and was found to be associated with factor deficiencies, possibly owing to the presence of anti-factor antibodies, in the intrinsic coagulation pathway, especially factor VIII. Further, splenectomy did not abolish the thrombocytopenia, since splenectomized, virally infected animals also developed severe thrombocytopenia (29 percent of control levels). The ensuing splenomegaly during progression of disease was not the cause of the thrombocytopenia. A physiological response to the severe thrombocytopenia was the production of larger size platelets. At terminal stages of the disease, platelet volume increased to 4.2 mu 3 (normal is 3.0 mu 3). An increase in platelet volume was also observed in splenectomized, virally infected animals. Electron microscopy indicated that these circulating platelets contained c-type viral particles. Viral infection was associated with decreased life span of circulating platelets, as measured by 75Se-methionine at mid and terminal stages of the disease. Our results suggest that direct viral infection of platelets and/or megakaryocytes with subsequent cell lysis is a possible cause of the observed thrombocytopenia observed in RLVA-induced disease and may also occur in other retrovirally-induced diseases.
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PMID:Thrombocytopenia in a retrovirally-induced murine erythroleukemia. 145 28

A 70-year-old man, who had been diagnosed as primary myelofibrosis in 1987 at Tokyo Women's Medical School, was admitted to our hospital because of left hip-joint pain in May 1988. Physical examinations revealed marked hepatosplenomegaly and multiple reddish papules on the skin. The peripheral blood showed marked leukoerythroblastosis and severe anemia with poikilocytosis. Bone marrow aspirations were dry tap. Needle biopsy of iliac crest showed a diffuse fibrosis. Biopsy of the papules showed an extramedullary haematopoiesis. He was treated with low dose Ara-C for seven days. Although hepatosplenomegaly and skin papules were reduced, he died of pneumonia a month later. At autopsy, leukemic cells massively infiltrated into the multiple organs, including bone marrow. The cells were identified with megakaryoblast, as those were positive for factor VIII related antigen. As far as we know, this is the third case of primary myelofibrosis transformed into acute megakaryoblastic leukemia.
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PMID:[Primary myelofibrosis with extramedullary haematopoiesis of the skin transformed into acute megakaryoblastic leukemia]. 232 83

Oral thrush developed during the second month of life in the 5-month-old son of a patient with haemophilia A. He did not feed well, and interstitial pneumonitis, lymphadenopathy, hepatosplenomegaly, and a cellular immune defect consistent with the acquired immunodeficiency syndrome (AIDS) followed. Both parents had signs of pre-AIDS during the year before their son's illness. Transmission presumably occurred in 3 steps: parenterally, via factor VIII concentrate in the haemophiliac; heterosexually, from the haemophiliac to his wife; and vertically, from mother to infant, or via close paternal-infant or maternal-infant contact. This first report of AIDS in the child of a haemophiliac supports the theory that AIDS is caused by an infectious agent. Concentrate-treated haemophiliacs may transmit this agent to their spouses or children, resulting in pre-AIDS or AIDS.
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PMID:Acquired immunodeficiency syndrome in the child of a haemophiliac. 285 14

Flow cytometry using a DNA label can quantitate aneuploid clones in malignant tissue. We illustrated the clinical value of this technique in a 71-year-old woman with acute megakaryocytic leukemia, which was diagnosed by staining of the blasts with factor VIII antigen and their morphologic resemblance to megakaryoblasts. Marrow cells were removed from needle biopsies by vortexing in RPMI medium, centrifuged in Ficoll-Hypaque, stained with a propidium-iodide/NP-40 mixture, and analyzed at 488 nm using an argon laser. During 3 weeks of low-dose cytosine arabinoside (ara-c) infusion therapy, hyperdiploid peak A dropped from 35% (day 0) to 2.3% (day 14) to 0% (day 21), with development of marrow hypoplasia. Similarly, hyperdiploid peak B, went from 7.6% to 9.1% to 3.5%. Subsequently, her marrow recovered normal morphology and lost the aneuploid peaks. Her blood counts recovered to near normal. Four months later, she relapsed and had a return of the day-21, incompletely eradicated peak B. There was no evidence of peak A. Repeated treatment with ara-c resulted in temporary suppression of the disease, but she died 3 months later with progressive hepatosplenomegaly. Analysis of cells from her enlarged liver, heavily infiltrated with blasts, showed a large hyperdiploid peak B. In this patient, ara-c therapy induced a remission with permanent eradication of one clone, but incomplete eradication of a second clone, which ultimately led to her relapse and death.
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PMID:Flow cytometry shows recurrent aneuploid clone after remission in megakaryocytic leukemia. 319 26

Two patients with hemophilia A had generalized lymphadenopathy, lymphopenia, elevated IgG values, depressed T4 (helper) lymphocytes, elevated T8 (suppressor) lymphocytes, and abnormally low T4/T8 ratios. One of the patients, who also had hepatosplenomegaly, underwent cervical lymph node biopsy; the node contained 43% T8-lymphocytes, a marked elevation over the small fraction of T8 cells usually found in lymph nodes. These patients may have a form of the acquired immune deficiency syndrome described in male homosexuals, Haitians, intravenous drug abusers, and recently, in patients with hemophilia. We studied T cell phenotypes in 43 patients with hemophilia. Fourteen of 28 patients given commercial factor VIII concentrates had abnormal T4/T8 ratios; none of nine patients who used cryoprecipitate had abnormal values. T4 helper cells were significantly lower, T8 suppressor cells significantly elevated, and T4/T8 ratios significantly lower in the lyophilized concentrate users and in patients with hemophilia as a total group. The type of therapeutic factor VIII replacement may alter the risk of developing T4/T8 abnormalities or AIDS.
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PMID:Generalized lymphadenopathy and T cell abnormalities in hemophilia A. 622 33

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 9-year-old-boy with severe haemophilia A (factor VIII < 1%) developed colicky abdominal pain with swelling in the left iliac fossa for 4 weeks. His LDH level was 1423 IU/l (normal range < 220 IU/l) and his uric acid, 6.8 mg/dl. A computerised tomography (CT) scan of the abdomen demonstrated a tumour of the terminal ileum and mild hepatosplenomegaly. Pre-operative screening for factor VIII inhibitor was negative. Post-operatively, the patient needed high doses of factor VIII to maintain haemostasis. The tumour was found to be a high-grade lymphoma of Burkitt's type. He recovered from his operation and chemotherapy was commenced. Investigations demonstrated an anti-von Willebrand factor (VWF) antibody. He subsequently relapsed and died of progressive disease. Development of anti-VWF antibody in lymphoma is well known, but development of this antibody in a haemophilia A patient developing lymphoma has not been reported. The present case shows that antibody to VWF should be considered as a possible reason for an increased factor VIII requirement in such patients.
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PMID:Development of anti-VWF antibody in a patient with severe haemophilia A following the development of high-grade non-Hodgkin's lymphoma. 1206 87

Acquired factor X deficiency has been described in patients with amyloidosis but acquired factor V deficiency is quite rare. We report here a case of life-threatening bleeding and acquired factor V deficiency associated with primary amyloidosis. A 50-year-old man who had no previous hemorrhagic diathesis was referred to our hospital because of recurrent epistaxis, gingival bleeding and hemospermia. The laboratory examination revealed that both the prothrombin time (PT) and the activated partial thromboplastin time (aPTT) were significantly prolonged, and factor V activities were markedly decreased to 14-39% of the normal value. Other coagulation factors such as fibrinogen, prothrombin, factor VII, factor VIII, factor IX and factor X were subnormal and normal. Transaminases were slightly elevated but serological tests of hepatitis B and hepatitis C were negative. Mild hepatosplenomegaly was noted without sign of liver cirrhosis. The PT and aPTT obtained 8 years ago when he received a cholecystectomy due to cholecystitis were both normal. Specific assays for the detection of factor V inhibitor were repeatedly performed but no factor V inhibitor was found. Furthermore, a significant recovery of the infused factor V was noted shortly after an intravenous administration of 5-10 U fresh frozen plasma, but it did not last more than 6 h. Melena, bleedings into the left shoulder and buttock, and finally mortal retroperitoneal hemorrhage developed despite repeated infusions of large amounts of fresh frozen plasma. Acquired factor V deficiency associated with primary amyloidosis was suspected but histological diagnosis was not obtained because of the severe bleeding tendency. Autopsy revealed hepatosplenomegaly and massive deposits of AL amyloid in the liver, spleen, heart and other parenchymal organs. Perivascular amyloid deposition and factor V deficiency are both thought to be the cause of the severe hemorrhagic tendency seen in this patient.
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PMID:Life-threatening bleeding and acquired factor V deficiency associated with primary systemic amyloidosis. 1219 8

We report a 71-year-old man who presented with severe subcutaneous and later psoas muscle haemorrhage in the presence of a raised white cell count and hepatosplenomegaly. A circulating factor VIII (FVIII) inhibitor was detected and bone marrow morphology confirmed the presence of a myeloproliferative/myelodysplastic disorder. Initial treatment with high dose FVIII followed by recombinant factor VIIa was unsuccessful. Haemorrhage was controlled by the administration of activated prothrombin complex concentrate (FEIBA; Baxter healthcare, CA, USA) in combination with prednisolone, cyclophosphamide and i.v. immunoglobulin. The inhibitor became undetectable 14 weeks after presentation. The white cell count responded initially to hydroxyurea and later to cyclophosphamide. There have been only two previous reports of acquired haemophilia A in association with myelodysplastic disorders and no previous report of an association with a myeloproliferative disorder.
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PMID:An acquired factor VIII inhibitor in association with a myeloproliferative/myelodysplastic disorder presenting with severe subcutaneous haemorrhage. 1451 7

A 67-year-old man presented with a 3-day history of abdominal pain, fever, and significant weight loss over 2 months. Physical examination revealed left upper quadrant tenderness, hepatomegaly, splenomegaly, and bilateral pitting edema but peripheral lymphadenopathy was absent. Laboratory tests showed anemia, thrombocytopenia, elevated prothrombin time (PT), partial thromboplastin time (PTT), and increased lactate dehydrogenase (LDH). PTT was corrected completely in mixing study. Further workup for the cause of coagulopathy revealed decreased levels of all clotting factors except factor VIII and increase fibrinogen levels, which ruled out disseminated intravascular coagulation (DIC). Flow cytometry of peripheral blood was normal. Contrast-enhanced computed tomography (CECT) revealed splenomegaly with multiple splenic infarcts without any mediastinal or intraabdominal lymphadenopathy. Further investigations for infective endocarditis (blood cultures and transthoracic echocardiography) and autoimmune disorders (ANA, dsDNA, RA factors) were negative. The patient received treatment for sepsis empirically without any significant clinical improvement. The diagnosis remained unclear despite extensive workup and liver biopsy was conducted due to high suspicion of granulomatous diseases. However, the liver biopsy revealed high-grade diffuse large B-cell lymphoma (DLBCL). Unfortunately, patient died shortly after the diagnosis. Here we report a case of high-grade DLBCL with hepatosplenomegaly and splenic infarcts in the absence of any lymphadenopathy or focal lesions. This case highlights the fact that unusually lymphoma can present in the absence of lymphadenopathy or mass lesion mimicking autoimmune and granulomatous disorders. The diagnosis in these cases can only be made on histology, and hence the threshold for biopsy should be low in patients with unclear presentations and multiorgan involvement.
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PMID:Unusual Presentation of Diffuse Large B-Cell Lymphoma With Splenic Infarcts. 2820 80


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