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

Primary myelofibrosis (PMF) is regarded as a chronic myeloproliferative disorder. It is characterized by marrow fibrosis, leukoerythroblastosis, tear drop erythrocytes and extramedullary hematopoiesis. Most patients are in their late 50s when first diagnosed. Pediatric PMF is said to be quite rare. Here describe a female infant with PMF. The patient was born on Aug. 7, 1991. The pregnancy and delivery were uneventful. Hepatomegaly was noted soon after birth. Combined blood counts showed polycythemia and leukocytosis. It was thought to be extramedullary hematopoiesis due to intrauterine infection. She was followed up in another hospital, but since her condition was unchanged she was admitted to our hospital for further medical examinations at age 7 months. On the peripheral blood smear, there were tear drop erythrocytes, normoblasts and early myeloid elements. Repeated bone marrow aspirations were dry taps. This case presented the classical findings of fibrosis of the bone marrow on bone marrow biopsy. She is in good health without any therapy until now. A review of 7 cases of PMF, including our case, in Japanese children was made and discussed in comparison to adult cases.
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PMID:[Primary myelofibrosis in an infant--a case report and review of the literature]. 823 Jul 48

Hepatic venous outflow obstruction caused by hepatic vein thrombosis (HVT) is a manifestation of a hypercoagulable state, most commonly a myeloproliferative disorder (MPD). In the past, HVT was thought to have a poor prognosis unless treated surgically with portosystemic shunt or orthotopic liver transplantation (OLT). The aim of this study was to assess whether early diagnosis of the underlying hematologic disorder and institution of appropriate medical therapy have altered outcome. We reviewed the charts of 22 patients with HVT evaluated at our center from January 1986 to January 1995. The median age was 32 years (range, 14 to 59 years). Underlying etiologies were MPD, 13 (polycythemia vera, 8; essential thrombocythemia, 4; undefined, 1); dysfibrinogenemia, 1; anticardiolipin antibody, 1; oral contraceptive use, 3; and idiopathic, 4. All patients had ascites, hepatomegaly, and/or abdominal pain. Two underwent mesocaval shunting, and 1 had a peritoneal-venous shunt. Seven patients, including 1 with a mesocaval shunt, underwent OLT. The median duration of symptoms before transplantation was 6 months (range, 1.5 to 11 months). Six transplant patients are alive on long-term anticoagulation therapy at a mean post-OLT follow-up of 42 months (range, 2 to 77 months), without recurrence. Of 13 patients treated medically, 10 (77%) are alive at a median follow-up of 40 months (range, 17 months to 14 years 8 months), 1 has died, and 2 have been lost to follow-up. In a majority of patients, symptoms improve with prompt treatment of the underlying hematologic disorder, with a favorable long-term prognosis. Patients with decompensated liver disease can successfully undergo OLT with a low risk of recurrence on long-term oral anticoagulation.
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PMID:Reassessing the role of medical therapy in the management of hepatic vein thrombosis. 934 78

We examined the clinical characteristics of six patients with myelofibrosis secondary to myeloproliferative diseases whose clinical courses were complicated by pulmonary hypertension to determine possible causal links between the two disorders. Six patients (four male, two female), with diagnoses of myeloproliferative disease, myelofibrosis (one with polycythemia vera, three with agnogenic myeloid metaplasia, one with unclassified myeloproliferative syndrome, one with essential thrombocytosis), and pulmonary hypertension are presented. Measurement of the pulmonary artery pressure was performed by Doppler echocardiography in all patients and by right sided heart catheterization in four patients. The range of resting pulmonary artery systolic pressure was 35 to 47 mmHg above the mean right atrium by echocardiography. One patient had autopsy evidence of pulmonary myeloid metaplasia and interstitial fibrosis; another had acute leukemic infiltration of the lung parenchyma. All patients had thrombocytosis; symptomatology in one patient with marked thrombocytosis improved with plateletpheresis. Two patients suffered systemic thrombosis. All patients had severe hepatomegaly. Two patients had evidence of left ventricular dysfunction. The interval between the development of dyspnea and death was less than seven months in five of the patients. A causal link between pulmonary hypertension and myelofibrosis secondary to myeloproliferative diseases is suggested for each patient. Hematopoietic infiltration of the pulmonary parenchyma, portal hypertension, thrombocytosis, hypercoagulability, and left ventricular failure may account in part for the development of pulmonary hypertension in these patients. Patients with myelofibrosis and dyspnea should have Doppler echocardiography to evaluate pulmonary artery pressures.
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PMID:Pulmonary hypertension in patients with myelofibrosis secondary to myeloproliferative diseases. 992 5

We present two cases of transient abnormal myelopoiesis associated with trisomy 21 that had hypoechoic hepatomegaly during the late fetal period. Fetal chromosomal abnormality and fetal myeloproliferative disorder should be suspected in such cases.
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PMID:Hypoechoic hepatomegaly associated with transient abnormal myelopoiesis provides clues to trisomy 21 in the third-trimester fetus. 1138 Sep 72

Myelofibrosis with myeloid metaplasia (MMM) is a chronic myeloproliferative disorder in which the accumulation and growth of circulating myeloid progenitors in the spleen lead to pathologic enlargement of the organ with resulting mechanical discomfort, hypercatabolic symptoms, anemia, thrombocytopenia, and portal hypertension. Medical therapy and splenic irradiation may be of benefit in certain patients, yet many may still require splenectomy to palliate their symptoms. Although there is no clear survival advantage to splenectomy in MMM, the procedure can result in substantial palliation of symptoms. However, the surgical procedure is associated with an approximately 9% mortality rate, and the postsplenectomy occurrence of extreme thrombocytosis, hepatomegaly, and leukemic transformation is of major concern. The management of splenomegaly and the role of splenectomy in MMM are discussed in this review.
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PMID:Palliative splenectomy in myelofibrosis with myeloid metaplasia. 1169 45

Approximately two thirds of cases of hepatic flow obstruction are due to myeloproliferative disorders. Restoration of hepatic blood flow is the essential goal of treatment. Thrombolytic therapy seems to achieve good results at least in selected cases. A 32-year-old woman is presented, with an intermittent increase in platelet count (526-725 x 10(9)/L), two previous spontaneous abortions and acute symptomatic occlusion of hepatic veins, and in whom a diagnosis of essential thrombocythemia was initially carried out in agreement with the polycythemia vera study group criteria. She received recombinant tissue plasminogen activator followed by heparin with restoration of normal hepatic outflow. Asymptomatic re-occlusion of the hepatic veins was observed 1 year later, despite adequate continuous warfarin treatment. Angiography showed marked narrowing of the intrahepatic cava vein due to extrinsic compression by an enlarged liver, not due to a new thrombosis so that no specific intervention could be performed. In the presence of a dearly documented hepatic vein thrombosis, thrombolytic therapy should be considered. The patient was given low-molecular-weight heparin with a dramatic reduction in previously elevated fibrinogen level and a good control of the hepatic function.
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PMID:Thrombocytosis and recurrent hepatic outflow obstruction (Budd-Chiari syndrome) after successful thrombolysis: case report and literature review. 1251 87

The liver can be involved directly, by infiltration, and indirectly--by remote effects--in the histiocytoses of childhood. Langerhans cell disease, the most well recognized of these, infiltrates the liver directly but has a remarkable selectivity for the bile ducts. Early involvement is by Langerhans cell histiocytosis (LCH) infiltration leading to a sclerosing cholangitis and, eventually, biliary cirrhosis. Gamma glutamyl transpeptidase is a sensitive indicator of liver infiltration in a child with LCH. The indirect effects on the liver of LCH elsewhere in the body are mediated through an accompanying macrophage activation syndrome that is most likely responsible for hepatomegaly and hypoalbuminemia but without direct infiltration. These indirect effects are completely reversible. Juvenile xanthogranuloma/xanthoma disseminatum, a related dendritic cell disorder that can have systemic manifestations, has a strikingly different pattern, with a predominantly portal infiltrate spilling over into the adjacent lobule but sparing the biliary tree. The biology of the liver lesions is not clear but regression has been documented. Myeloproliferative disorders and myeloid leukemias can express CD1a and/or S100 protein, mimicking LCH but distinguished by their sinusoidal pattern. The primary macrophage histiocytoses such as the familial hemophagocytic syndromes can lead to severe liver damage. Although a portal lymphohistiocytic infiltrate is most characteristic, it is probably cytokine-mediated hepatocellular damage that can cause substantial functional impairment or even hepatic failure as a presenting feature. Liver involvement in other, more unusual histiocytic disorders, is also illustrated.
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PMID:Liver involvement in the histiocytic disorders of childhood. 1502 67

Sequestration of circulating immature myeloid progenitors in the chronic myeloproliferative disorder myelofibrosis with myeloid metaplasia (MMM) leads to extramedullary hematopoiesis (EMH), as well as end organ enlargement and dysfunction. When medical therapy is inadequate to control symptomatic myeloproliferation, both surgical resection and/or external beam radiotherapy may provide palliative cytoreduction in specific situations. Therapeutic splenectomy may provide relief of pain, mass effect, an improvement in cytopenias, or even palliation of portal hypertension. However, the risks of perioperative and long-term complications limit the use of splenectomy in MMM to specific candidates. In addition to splenectomy, portal hypertension has been palliated by either elective esophageal variceal ligation or porto-systemic shunting (through either open or invasive radiographic means). External beam radiotherapy can provide palliative cytoreduction in afflicted organs, with the greatest benefit seen in the lungs and spine. Splenic radiation also can provide a decrease in the size of the organ but carries the risk of myelosuppression and potentially increases the risk associated with subsequent splenectomy. Hepatic and abdominal radiation may palliate hepatomegaly and/or ascites, but cytopenias are common and responses brief. Novel therapies aimed at the pathogenesis of the disorder are needed for more efficacious and targeted therapy of MMM.
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PMID:Surgical and radiotherapeutic approaches for myelofibrosis with myeloid metaplasia. 1620 86

The p75 CCAAT-displacement protein/Cut homeobox (CDP/Cux) isoform was previously reported to be overexpressed in human breast cancers. To investigate its oncogenic potential, we engineered two transgenic mouse lines expressing p75 CDP/Cux under the control of the mouse mammary tumor virus-long terminal repeat. The FVB strain of mouse is generally used in the generation of mouse models for breast cancer. The transgene was introduced into the hprt locus of 129/Ola embryonic stem cells and, following germ line passage, was backcrossed onto the FVB and C57BL/6 mouse strains. Here, we describe the phenotype of p75 CDP/Cux transgenic virgin female mice of the first backcross generations. We report that after a long latency period, approximately 33% of mice from two independent transgenic lines and from backcrosses into either the FVB or the C57BL/6 strains succumbed to a similar disease characterized by splenomegaly, hepatomegaly, and frequent infiltration of leukocytes into nonhematopoietic organs like the kidneys and lungs. Although an excess of B or T cells was observed in three diseased mice, in 17 other cases, histologic and flow cytometry analyses revealed the expansion of a population of neutrophils in the blood, spleen, and bone marrow. The increase in neutrophils correlated with signs of anemia and thrombocytopenia, whereas there was no indication of a reactive process. Therefore, p75 CDP/Cux transgenic mice displayed heightened susceptibility to a disease defined as a myeloproliferative disease-like myeloid leukemia. These results indicate that the overexpression of p75 CDP/Cux could alter homeostasis in the hematopoietic compartment.
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PMID:Transgenic mice expressing the p75 CCAAT-displacement protein/Cut homeobox isoform develop a myeloproliferative disease-like myeloid leukemia. 1701 5

A 68-year-old woman was admitted to our hospital with severe ascites, hepatomegaly and hypereosinophilia. We initially suspected Budd-Chiari Syndrome (BCS), but that was ruled out after confirming the presence of no obstruction in the major veins. A molecular biologic examination proved the clonality of the eosinophils and she was therefore diagnosed as having chronic eosinophilic leukemia (CEL). The pathologic findings of a liver biopsy showed dilation of the sinusoids with infiltration of eosinophils, portal eosinophilic infiltrations with fibrosis, and biliary damage. These findings thus suggested infiltration of the liver by the CEL. A relationship between myeloproliferative disorders and BCS has been commonly reported, however there have so far been very few reports which describe the pathology of CEL liver infiltrates. As a result, the present case in which CEL occurred while demonstrating symptoms and findings similar to BCS is therefore considered to be extremely rare. Further accumulation of such cases should therefore be carried out in the future.
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PMID:[Chronic eosinophilic leukemia with symptoms resembling Budd-Chiari syndrome due to liver infiltration]. 1763


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