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)

The autoimmune lymphoproliferative syndrome (ALPS) or Canale-Smith syndrome is a recently described clinical entity consisting of chronic, non-malignant lymphadenopathy and hepatosplenomegaly together with hypergammaglobulinemia, positive autoantibodies and/or overt autoimmune diseases. It is caused by a genetic defect in the mechanism of programmed cell death (apoptosis) and is characterized by the presence of double-negative (TCR alpha/beta CD4- CD8-) T lymphocytes (DNT). Although well known in pediatric patients, ALPS is an unusual diagnosis in adults. The oldest reported patient was aged 54. We describe another two adult patients in whom a presenting autoimmune disease led to the diagnosis of ALPS.
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PMID:The autoimmune lymphoproliferative syndrome (Canale-Smith) in adulthood. 1474 82

Macrophage activating syndrome (MAS) is a rare hematological disorder associated with uncontrolled systemic T-cell activation. Persistent fever, fatigue and hepatosplenomegaly are frequent clinical manifestations, whereas hyperferritinemia, elevated serum lactate dehydrogenase levels and cytopenia are key criteria for the diagnosis of MAS. The nature of liver pathology in MAS has been partially elucidated but destructive biliary lesions have been rarely described. This report illustrates four cases of MAS developing marked cholestasis, leading to one case of biliary cirrhosis necessitating liver transplantation. Histologically, liver involvement was characterized in all cases by acute lobular hepatitis, marked hepatocyte apoptosis and small bile duct injury similar to the vanishing bile duct syndrome. Immuno-histological studies showed that the inflammatory changes and bile duct lesions were dominated by the presence of activated macrophages and T-cells, in particular CD8+ lymphocytes, and in part NK-cells. These findings suggest that in MAS, various T-cell triggers such as infection, autoimmune disease and malignancy might result in the release of cytokines, which in turn activate macrophages to trigger a systemic acute phase response and local tissue damage. This communication suggests that a macrophage, T- and NK-cell network is operational in the pathogenesis of the cholangiocyte, hepatocyte and sinus endothelial cell damage in MAS.
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PMID:Macrophage activating syndrome is associated with lobular hepatitis and severe bile duct injury with cholestasis. 1661 13

Haemophagocytic syndrome is a disorder characterised by fevers, lymphadenopathy, hepatosplenomegaly, cytopenias, and hyperferritinaemia due to dysregulated activation and proliferation of macrophages, leading to uncontrolled phagocytosis of platelets, erythrocytes, lymphocytes, and their haematopoietic precursors throughout the reticuloendothelial system. Primary or familial haemophagocytic syndrome appears to have a genetic aetiology, whereas secondary haemophagocytic syndrome may be associated with malignancy, autoimmune disease, or infection. Epstein-Barr virus is the most common infectious aetiology implicated in haemophagocytic syndrome, but the syndrome has been associated with a variety of other viral, bacterial, and parasitic pathogens. We describe a case of haemophagocytic syndrome associated with disseminated Mycobacterium tuberculosis. We review all cases of M tuberculosis-associated haemophagocytic syndrome reported in the English language literature and discuss important issues pertaining to the epidemiology, diagnosis, and management of this disease.
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PMID:Tuberculosis-associated haemophagocytic syndrome. 1679 Mar 85

Hemophagocytic syndrome (HS) is a rare but life-threatening disease caused by inappropriate activation of T-lymphocytes and histiocytes, hipercytokinemia and hemophagocytosis. The most common symptoms are fever, hepatosplenomegaly, unspecific neurological abnormalities, pancytopenia, coagulopathy, hiperferritinemia and lipid abnormalities. HS is classified into two forms: primary, inherited (Familial Hamophagocytic Lymphohistiocytosis--FHL) and secondary (associated with infection, malignancy, autoimmune disease). In spite of the fact that diagnostic guidelines are available it often remains unrecognised. Prognosis of HS depends on the form of disease and in case of secondary HS on the underlying disease. Development of the treatment protocols (HLH-94, HLH-2004) which combine immunochemiotherapy with hematopoietic stem cell transplantation has strongly improved prognosis in HS especially in the primary form. Three-year overall survival for children with HS is now over 50%. Early diagnosis and appropriate therapy is crucial for effectiveness of the treatment. Popularisation of the knowledge about the syndrome, diagnostic guidelines and treatment protocols can contribute to more frequent appropriate recognition of HS and to improvement of the treatment results.
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PMID:[Hemophagocytic syndrome: diagnostic problems]. 1689 1

Reactive hemophagocytic syndrome or hemophagocytic lymphohistiocytosis, is characterized by the proliferation of benign histiocytes showing phagocytosis of blood cells in hematopoietic organs including bone marrow, spleen, or lymph nodes, accompanied by fever, hepatosplenomegaly, hepatic dysfunction, pancytopenia, and hypertriglyceridemia. The pathogenesis of reactive hemophagocytic syndrome is unknown. It is often associated with infection, malignant neoplasm, autoimmune disease, drugs and various immunodeficiencies. The prognosis of this syndrome is poor and the causes of death are hemorrhage, infection, or multiorgan failure. We experienced a case of hemophagocytic syndrome with terminal ileal ulcers, not associated with other causes. Thus, we report this case with a review of literatures.
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PMID:[A case of hemophagocytic syndrome with terminal ileal ulcerations]. 1704 37

We report a case of B-cell lymphoma during pregnancy associated with hemophagocytic syndrome and placental involvement. A 33-year-old Japanese woman developed pancytopenia, hepatosplenomegaly, and a high-grade fever for 2 weeks at 23 weeks of gestation. The demonstration of hemophagocytes in her bone marrow confirmed the diagnosis of hemophagocytic syndrome. She was referred at 25 weeks of gestation for evaluation of hemophagocytic syndrome. The screening for infection and autoimmune disease was negative. Clinical manifestation suggested malignant lymphoma as the underlying cause of hemophagocytic syndrome, but we could not confirm any lymphoma involvement in the bone marrow aspiration. Glucocorticoid therapy did not arrest the hemophagocytic process. Her general status worsened, and reduction of amniotic fluid was noted. At 28 weeks of gestation, we performed a Cesarean section because of fetal distress. Microscopic examination of placental specimen revealed diffuse infiltration of large, atypical lymphoid cells involving the intervillous space. Using immunohistochemical study, we made the diagnosis of B-cell lymphoma. R-CHOP (rituximab/cyclophosphamide/doxorubicin/vincristine/prednisone) chemotherapy was administered on the eighth postpartum day. After 2 cycles of R-CHOP chemotherapy, hematopoiesis became normal and hepatosplenomegaly almost completely disappeared. After 6 cycles of R-CHOP, the patient received autologous peripheral-blood stem cell transplantation, and she is currently in complete remission 1 year after diagnosis. The infant did well, without clinical or laboratory manifestations of malignant lymphoma. In cases with suspected malignancy associated with hemophagocytic syndrome during pregnancy, it is important to verify placental microscopic examination for evaluating the causative disease of hemophagocytic syndrome.
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PMID:B-cell lymphoma during pregnancy associated with hemophagocytic syndrome and placental involvement. 1787 40

Neonatal lupus erythematosus is an uncommon transplacentally acquired autoimmune disorder. The most common clinical manifestations are skin rash, congenital atrioventricular block, thrombocytopenia, leukopenia, anemia, and hepatosplenomegaly. Usually, the skin rash resembles subacute cutaneous lupus, but different forms of rash have been reported in neonatal lupus erythematosus and some are rare forms. NLE should be suspected in babies with atypical skin lesions, even if present at birth.
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PMID:Neonatal lupus erythematosus: an acquired autoimmune disorder and its cutaneous manifestations. 1866 51

Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is an autosomal recessive auto-inflammatory disorder characterized by recurrent febrile attacks with lymphadenopathy, abdominal distress, skin eruptions and joint involvement. We discuss the case of a 15-year-old Japanese girl who had presented with periodic fever, hepatosplenomegaly and intractable diarrhea from seven weeks of age. At first, undifferentiated autoimmune disorder was suspected, and she was treated with prednisolone and, in turn, with immunosuppressants such as cyclosporine, methotrexate, cyclophosphamide and rituximab or with plasma exchange. However, these trials failed to relieve her symptoms, and so she was transferred to our hospital when she was 15 years old. Her parents and elder brother had no history of recurrent fever, prolonged abdominal pain or diarrhea of unknown origin. The patient had extremely elevated levels of mevalonic aciduria and had homozygosity as a novel mutation in the MVK gene (G326R). Finally, HIDS was diagnosed. She was treated with simvastatin, which resulted in a moderate decrease of the urinary mevalonic acid concentration and good clinical course. This is the first case in which homozygosity for the mutation of the MVK gene has been reported in an Asian patient, and indicated a need for differentiation.
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PMID:Hyper-IgD syndrome with novel mutation in a Japanese girl. 1894 11

Disseminated infections with hemophagocytic syndrome caused by non-tuberculous mycobacteria (NTM) are rare. A 60-year-old woman, who presented with fever, chills, anorexia, and right upper quadrant pain, was admitted to our hospital. Hepatosplenomegaly, pancytopenia, elevated liver aminotransferases, and hyperferritinemia were noted after admission. A gallium scan and chest computed tomography revealed multiple mediastinal lymphadenopathy. A bone marrow examination revealed hemophagocytosis. Bone marrow and liver biopsies showed non-caseating granulomatosis and cultures from bone marrow and liver all yielded Mycobacterium kansasii. The patient responded well to azithromycin, isoniazid, rifampin, and ethambutol. No immunocompromised conditions such as malignancy, autoimmune disease, or HIV infection were detected initially. However, a right femoral tumor with pathological fracture was found five months later during follow-up at the outpatient clinic. Bone biopsy showed granulocytic sarcoma. To our knowledge, this is the first reported case of life-threatening hemophagocytosis due to M. kansasii. Patients with disseminated NTM infections should be closely monitored if any immunocompromising condition develops.
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PMID:Disseminated Mycobacterium kansasii infection associated with hemophagocytic syndrome. 1965 7

In order to profoundly understand the clinical and laboratorial characteristics and inducing factors of hemophagocytic lymphohistiocytosis syndrome (HLH), 28 HLH patients received from 2004 to 2009 years in our hospital were analyzed retrospectively. The results indicated that all of the patients had a history with prolonged fever (more than 1 week), pancytopenia, hepatosplenomegaly, elevated ferritin level, hypofibrinogen, and hemophagocytosis in bone marrow. HLH was the first characteristic sign of malignant lymphoma in 9 patients; 1 patient had a clinical manifestation similar to fulminant hepatic failure; severe psycho-abnormality occurred in 1 HLH patient and pronounced hemophagocytosis were detected in his cerebrospinal fluid; 1 patient was eventually diagnosed as having HLH by the findings in a lymph node biopsy showing obvious hemophagocytosis. Additionally, the analysis of underlying factors in 28 patients with HLH indicated 11 patients with EB virus-associated HLH, 11 with lymphoma-associated HLH, 2 with Leishmania-associated HLH, and 3 with autoimmune disease-associated HLH. It is concluded that HLH disease is characterised with high heterogenicity in both clinical features and inducing factors; in addition, the patients from a pasturing area should be paid attention to parasite infection such as leishmania.
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PMID:[Clinical analysis on 28 patients with hemophagocytic lymphohistiocytosis syndrome]. 2041 89


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