Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Budd-Chiari syndrome (BCS) was diagnosed in a 30-year-old male hospitalized with hepatomegaly, abdominal collateral vessels and hepatic veins and inferior vena cava thrombosis (IVC) in 1988. The presence of circulating lupus anticoagulant (LAC) was suspected and demonstrated on this occasion in view of an earlier diagnosis of systemic lupus erythematosus (SLE) and recurrent vein thrombosis dating from 1981. There are sporadic reports of an association of BCS with SLE and other autoimmune diseases. The recent literature also describes associations with hypercoagulability due to LAC. These are reviewed together with the personal case to provide the rationale for correct diagnosis and therapy.
 ...
PMID:Association of the Budd-Chiari syndrome with lupus anticoagulant. Case report and critical review. 174 29

We report the case of a woman with lupus anticoagulant-positive systemic lupus erythematosus who developed small hepatic vein occlusion. Since the age of 34, she had been known to have hepatomegaly. A definitive diagnosis of systematic lupus erythematosus was made eight years later. Histological evaluation of the liver biopsy specimen was not fully diagnostic of prominent hepatomegaly during this period. Occlusion of the small hepatic veins was confirmed by hepatic venography, but the lumen of the large hepatic veins showed a smooth appearance. The lupus anticoagulant and anti-cardiolipin antibody were both positive. Since a high incidence of thromboembolic diseases in patients with the lupus anticoagulant or anti-cardiolipin antibody has been reported, the presence of this type of anticoagulant may provide an explanation for hypercoagulability and subsequent development of hepatic vein thrombosis in this patient. This is the first report of a patient with systemic lupus erythematosus who developed an occlusion of small hepatic veins attributable to the lupus anticoagulant and anticardiolipin antibody. This case suggested that a systematic search for hepatic vein occlusion should be made in patients with systemic lupus erythematosus who have developed inexplicable hepatomegaly, especially in those with positive tests for the lupus anticoagulant and/or anti-cardiolipin antibody.
 ...
PMID:Occlusion of small hepatic veins associated with systemic lupus erythematosus with the lupus anticoagulant and anti-cardiolipin antibody. 251 8

Hepatic venous outflow obstruction also called the Budd-Chiari syndrome is increasingly being recognized as a cause of portal hypertension. In western countries the obstruction is usually in the hepatic veins while in reports from South Africa, Japan and India the predominant cause is a block in the IVC at the level of the diaphragm above the entry of the hepatic veins. A hypercoagulable state caused by myeloproliferative haematological disorders, clonal defects in haemopoietic stem cells, lupus anticoagulant, contraceptive pills and postpartum state are some of the aetiological conditions described. However in 25% to 75% cases no cause can be identified. The predominant presenting features in patients with hepatic vein obstruction are hepatomegaly and ascites while those with IVC obstruction show prominent veins on the trunk and back. Ultrasound examination should be the first investigative step. However a liver biopsy is the gold standard of diagnosis. To confirm the site of obstruction inferior vena cavography or functional hepatography may be required. In the acute phase thrombolytic therapy may be useful but for established cases either surgical intervention in the form of shunts or recently balloon angioplasty may be helpful. For patients with established cirrhosis and end-stage liver failure the only alternative is liver transplantation. All these patients however should be put on long term anticoagulants to prevent rethrombosis. Some series have reported that upto 45% of patients may develop hepatocellular carcinoma on long term followup. With proper management a larger proportion of patients can be returned to a useful productive life.
 ...
PMID:Hepatic venous outflow obstruction. 982 3

We report on the characteristics of 21 patients with hepatosplenic gammadelta T-cell lymphoma (HSgammadeltaTCL), an entity recognized since 1994 in the Revised European American Lymphoma (REAL) classification. Median age was 34 years. Patients had splenomegaly (n = 21), hepatomegaly (n = 15), and thrombocytopenia (n = 20). Histopathologic findings were homogeneous and showed the presence of medium-sized lymphoma cells within the sinusoids of splenic red pulp, liver, and bone marrow. Marrow involvement was usually mild but could be demonstrated by phenotyping in all patients. Cells were CD3+CD5-, expressed the gammadelta T-cell receptor, and had a nonactivated cytotoxic cell phenotype (TIA-1+, granzyme B-). Most patients were CD4-/CD8- (16 of 18); CD56+ (15 of 18), expressed the Vdelta1epitope (Vd1+/Vd2-/Vd3-) (9 of 12); and were negative for Epstein-Barr virus (EBV) (18 of 20). Isochromosome arm 7q was documented in 9 of 13 patients. Eight patients had previously undergone kidney transplantation or had a history of systemic lupus, Hodgkin disease, or malaria. Prognosis was poor; median survival time was 16 months, and all but 2 patients ultimately died despite consolidative or salvage high-dose therapy. In conclusion, HSgammadeltaTCL is a disease with distinctive clinical, histopathologic, and phenotypic characteristics. Bone marrow biopsy with combined phenotyping is sufficient for diagnosis, and splenectomy is therefore unwarranted. Current treatment modalities appear to be ineffective in most patients.
 ...
PMID:Hepatosplenic gammadelta T-cell lymphoma is a rare clinicopathologic entity with poor outcome: report on a series of 21 patients. 1290 41

The case of a 42-year-old female with Budd-Chiari syndrome (BCS) and lupus anticoagulant is reported. This patient, who had been on chronic anticoagulants for her lupus anticoagulant, presented with abdominal pain, dyspnea on exertion, engorged abdominal wall venous collaterals, and hepatomegaly. A dynamic computerized tomography of the abdomen showed complete suprahepatic inferior vena caval occlusion at the junction with the right atrium. IVC venogram confirmed the diagnosis and also demonstrated patency of the hepatic veins. Free hepatic venous pressure was 25-26 mm Hg. Histopathologic examination of the liver showed marked central venous congestion with significant bridging fibrosis. The total caval occlusion and overt calcification of the clot precluded radiologic angioplasty, and the patient underwent a successful surgical thrombectomy with cavoplasty utilizing an autologous venous patch. Several weeks following surgery, she was free of symptoms and resumed her usual daily activities. Follow-up venography showed a widely opened cava with normal free hepatic vein pressures. Repeat liver biopsy at 6 months showed complete resolution of the hepatic venous congestion and a decrease in the degree of fibrosis.
 ...
PMID:Suprahepatic Budd-Chiari syndrome treated with thrombectomy and cavoplasty. 1292 61

We report the case of a 41-year-old woman, affected by Vaquez syndrome, admitted to our hospital for a severe pain in the right hypochondrium, suddenly followed by hepatomegaly and ascites. The clinical and laboratory data were suggestive of hepatic insufficiency and abdominal ultrasonography, integrated by color Doppler and computed tomography, revealed an interrupted hepatic venous outflow. In addition a spontaneous prolonged partial thromboplastin time was present and the patient was found to be positive for lupus anticoagulant. A transient clinical improvement, with a partial reperfusion of suprahepatic veins, was achieved with medical treatment by using anticoagulants, diuretics and paracentesis. However, the patient showed a subsequence of suprahepatic venous thrombosis, although two transjugular intrahepatic portosystemic shunts with stent placement and local thrombolysis were performed. The polycythemia vera is a disease mainly associated with Budd-Chiari syndrome but, in our patient, the thrombotic event occurred in spite of normal values of hematocrit and platelet count. Certainly in this case the lupus anticoagulant positivity represents an additional thrombogenic factor. Nowadays the antiphospholipid antibody syndrome is a recognized and not unusual cause of Budd-Chiari syndrome but, to our knowledge, this is the first case characterized by the presence of polycythemia vera and antiphospholipid antibody syndrome to be reported.
 ...
PMID:[Budd-Chiari syndrome with fatal outcome in a patient with polycythemia vera and antiphospholipid antibody syndrome]. 1552 39

The spectrum of hepatic disease in systemic lupus erythematosus (SLE) ranges from subclinical elevations of liver enzymes to rare reports of hepatic arteritis and infarction. Whether liver disease occurs as a consequence of (or is merely coincident with) lupus activity is not known. In our example, an episode of unexplained acute hepatitis occurred in association with pancytopenia. Both responded to increased doses of prednisone and were believed to be manifestations of SLE. The importance of hepatic disease and its contribution to morbidity and mortality in patients with SLE is controversial. Based on a critical review of the literature, we conclude that, although liver disease in SLE occurs more frequently than previously believed, it is usually limited to asymptomatic hepatomegaly and/or isolated elevations in liver function tests.
 ...
PMID:The clinical significance of liver disease in systemic lupus erythematosus. 1907 23

Systemic lupus erythematosus is a multisystemic inflammatory disease with diverse clinical manifestations. Hepatic lesion is a rarely seen complication of systemic lupus erythematosus. We report a case of complication of lupus presented as cholestatic syndrome in a 41-year old woman with lupus in her medical history for the past seven years. A general examination showed jaundice and hepatomegaly, with elevated bilirubin and aminotransferase levels in the liver function tests. The liver biopsy was performed and the microscopic examination revealed cholestasis with bile plugs without any signs of inflammation and liver tissue necrosis. After the three months steroid therapy the clinical symptoms resolved and the laboratory values normalized. The various factors are considered to be involved in the ethiopathogenesis of liver damage. Previous treatment with potentially hepatotoxic drugs (imuran in this case) or viral hepatitis have usually been implicated as the main cause of liver disease in lupus patients. On the other hand, even after careful exclusion of these ethiologies, the problem remains whether to classify the patient as having a primary liver disease with associated autoimmune and laboratory features resembling lupus, or as having a liver disease as a manifaestaion of lupus.
 ...
PMID:[Cholestatic syndrome in patients with systemic erythematous lupus--differential diagnostic aspects]. 1910 78

Kikuchi-Fujimoto disease is a necrotizing lymphadenitis, involving young patients, predominantly females. Lymphadenopathy is usually localized, particularly in the cervical area, mostly unilateral and tender. Fever is present in one third of cases. Associated skin lesions, arthralgia, myalgia, splenomegaly or hepatomegaly are rare. Laboratory evaluation shows a slight increase of erythrocyte sedimentation rate and leukopenia. Kikuchi-Fujimoto has been reported in association with other diseases, including systemic lupus, Still's disease, hemophagocytosis, pregnancy, other autoimmune diseases, and cancer. A viral or bacterial origin has been suspected but not confirmed. Lymph node biopsy allows the diagnosis and shows necrotizing lymphadenitis with acidophil necrosis, CD68+ histiocyte infiltrate, presence of plasmacytoid monocytes, multiple apoptotic cells (CD8+ T cell) with nuclear dust, immunoblastic reaction and the absence of neutrophils or eosinophils. The disease course is usually spontaneously favourable in few weeks or months, requiring corticosteroids only occasionally.
 ...
PMID:[Kikuchi-Fujimoto disease]. 2060 87

Neonatal lupus erythematosus (NLE) is characterized by the transplacental passage of maternal anti-Ro and/or anti-La antibodies and characteristic illnesses in the foetus/neonate. Most attention has focused on the most serious complication- cardiac involvement. This article will focus on non-cardiac involvement. Skin involvement (cutaneous NLE) is present in 15-25% of children with NLE. The rash of NLE tends to be photosensitive but may be present at birth or in non-sun exposed areas. It is most frequently seen around the eyes, not in the malar area, but also occurs in other parts of the body. The pathology resembles the rash of subacute cutaneous lupus erythematosus. Anti-Ro antibodies are present in >95% with the remaining mothers having anti-U1RNP antibodies only. Asymptomatic elevation of liver function tests, which may be associated with evidence of cholestasis, is seen in 10-25% of cases of NLE. Mild hepatomegaly and less commonly splenomegaly may be present. Liver involvement seen in isolation or associated with other features. The pathology resembles idiopathic neonatal giant cell hepatitis. Any haematological lineage, neutropenia and thrombocytopenia most commonly, may be affected by NLE. Haematological involvement is almost always asymptomatic. There are protean manifestations of neurologic involvement in NLE: hydrocephalus, non-specific white matter changes, calcification of the basal ganglia and a 'vasculopathy'. The most unusual feature of NLE is the radiographic finding of stippling of the epiphyses (chondrodysplasia punctata). Overall, non-cardiac involvement of NLE is more common than cardiac. The study of these manifestations may lead to new insight into how autoantibodies lead to disease.
 ...
PMID:Non-cardiac manifestations of neonatal lupus erythematosus. 2069 19


1 2 Next >>