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)

Twenty-one of 30 patients with essential mixed cryoglobulinemia (EMC) had evidence of liver involvement. The liver disease was characterized by the absence of clinical symptoms, hepatosplenomegaly, mild elevation of enzymes, abnormal BSP retention and low albumin levels. Histology, available in 12 patients, showed either chronic persistent or chronic active hepatitis or liver cirrhosis; 44% of the patients had HBsAg or HBsAb in sera and/or cryoglobulins, confirming the high frequency of exposure to hepatitis B virus (HBV) infection in EMC. However, liver lesions were similar in all patients, regardless of HBV exposure. Since other factors usually associated with chronic liver diseases were absent or apparently irrelevant, it is temptative to speculate that a 'cryoglobulinemic hepatitis' may exist as a distinct syndrome. The characteristic complement profile of the patients with EMC (low CH50 and C4, normal C3PA), not related to albumin levels, can help to differentiate this disease from chronic liver disease without cryoglobulins.
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PMID:Liver involvement in essential mixed cryoglobulinemia. 54 44

Essential mixed cryoglobulinemia (EMC) is a syndrome characterized by cryoglobulinemia and clinical features including purpura, arthralgia, asthenia (Meltzer-Franklin syndrome) without evidence of any systemic disease Liver involvement in the course of EMC is described in 50-84% of patients. It consists of mild silent hepatosplenomegaly and slightly rise of serum amino transferase. Eleven patients with clinical and laboratory findings suggestive for EMC (five type II and six type III) underwent percutaneous liver biopsy to evaluate the degree of liver involvement. Two liver cirrhosis, two chronic active hepatitis, one chronic persistent hepatitis and a case of hepatic steatosis were found. A type III cryoglobulinemia was present in four of the six patients with liver involvement. All the patients were Hbs Ag negative but three of them were Hbs Ab positive. The pathogenesis of liver involvement in the course of EMC is still now uncertain. The authors believe that a previous HBV infection plays no role in the pathogenesis of EMC syndrome. This syndrome must be considered different from mixed cryoglobulinemia secondary to chronic liver disease. They suggest that liver biopsy is mandatory during the course of EMC even when clinical and laboratory data are silent.
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PMID:[Essential mixed cryoglobulinemia with liver involvement: a still open problem]. 238 52

Patients with active rheumatoid arthritis frequently have hepatosplenomegaly and biochemical features of hepatic disease. A prospective study with liver biopsy has been carried out in a series of 31 rheumatoid arthritis patients with clinical and/or biochemical evidence of hepatic dysfunction. Four of the 31 (13%) were found to have definable chronic liver disease, normal hepatic histology or non-specific reactive changes being found in the remainder. In the large majority of patients the hepatic abnormality in rheumatoid arthritis remains functional and unexplained.
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PMID:Liver disease in rheumatoid arthritis. 720 93

High prevalence rates of hepatitis C virus (HCV) were recently reported among Egyptian blood donors. To confirm these observations and estimate the magnitude of HCV infection in this country, we determined the prevalence of antibodies to HCV (anti-HCV) in samples collected in 1992 from seven different populations of children and adults living in Egypt. Anti-HCV was found in 12.1% of rural primary schoolchildren, 18.1% of residents of a rural village, 22.1% of army recruits, 16.4% of children with hepatosplenomegaly, 54.9% of hospitalized, multitransfused children, 46.2% of adults on hemodialysis, and 47.2% of adults with chronic liver disease or hepatoma. Age-related prevalence of anti-HCV in a random sample of 270 inhabitants of a rural village increased progressively from zero in those 5-10 years of age to 41% in adults greater than the age of 50. Although the increased prevalence of anti-HCV among children and adults with parenteral exposures and chronic liver disease was expected, the prevalence of anti-HCV among persons representing the general population of Egypt was strikingly high. These data demonstrate the magnitude of HCV infection and its importance in chronic liver disease in Egypt. Future studies are needed to determine the routes of transmission of HCV in this country.
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PMID:High seroprevalence of hepatitis C infection among risk groups in Egypt. 752 86

Chronic liver disease due to obstructive lesion of the hepatic inferior vena cava (IVC) is common in Nepal. This study presents 10 patients with cavographically documented membranous obstruction of the hepatic IVC with minimal symptoms and a benign course. One patient with an incomplete membrane had balloon dilation of the lesion. The duration of the disease among these patients varied from 5 months to 23 yr; eight patients have been followed for periods varying from 1 to 15 yr, with an average of 6 yr. In developing countries, the possibility of hepatic IVC obstruction should be considered in the differential diagnosis of hepatomegaly or hepatosplenomegaly, even in the absence of ascites and external cava-caval collateral. Routine liver and hematology tests in these patients usually are normal, and liver biopsy findings may not always be specific. Ultrasound, however, has proved to be the best diagnostic procedure for the condition. The lesion can be demonstrated easily by cavography. The disease runs a chronic course, and, in the absence of resistant ascites or repeated variceal bleeding, surgical procedures such as cavoatrial bypass, which are a significant cause of death in developing countries, may be contra-indicated.
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PMID:Membranous obstruction of the hepatic portion of the inferior vena cava: is this an underdiagnosed entity in developing countries? 867 37

A 3-year-old girl presented with hemolytic anemia, hepatosplenomegaly, ascites, and evidence of decompensated chronic liver disease. Genotypic DNA analysis revealed that the patient was homozygous for a splice site mutation now designated IVS4-1:G>C, expected to destroy completely the functional gene product of ATP7B, the gene responsible for Wilson's disease. We suggest that this severe mutation caused very early liver disease. Wilson's disease should be considered in the differential diagnosis of established liver disease in the preschool-aged child.
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PMID:Severe hepatic Wilson's disease in preschool-aged children. 1106 May 41

A 30 years old, non-alcoholic farmer from Trishal, Mymensingh was admitted in Mymensingh Medical College Hospital on 7 February, 2004 with the complaints of gradual swelling of abdomen, both legs and upper abdominal pain for 3 months. For the last 6 years, he was treated as a case of chronic liver disease (CLD) with spironolactone and frusemide. He was non-icteric, mildly anaemic with mild oedema, clubbing, gynaecomastia and engorged vein over anterior abdominal wall, flanks and back. Direction of venous flow was from below upward. There were mild hepatosplenomegaly, ascites and bilateral testicular atrophy. He was diagnosed as a case of Budd-Chiari Syndrome (BCS) on the basis of physical examination and it was confirmed by the findings of ultrasonography, liver scan and doppler study. The patient was managed by medical therapy alone.
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PMID:Budd-Chiari syndrome. 1569 63

X-linked Hyper IgM is characterized by an absence of the CD40 ligand on activated T lymphocytes resulting in defects of both cellular and humoral immunity. Patients usually present with recurrent bacterial and opportunistic infections. Chronic liver disease is seen in about 75% of patients as a complication. Here, we report a 3.5-year-old boy with X-linked Hyper IgM referred to our clinic for bone marrow transplant. He was transplanted from an HLA-identical sibling donor using a new conditioning agent, treosulphan, together with cyclophosphamide. Since 6 months of age, he has had recurrent respiratory infections, and his XHIGM was diagnosed when he was 1.5 years old. The diagnosis was confirmed by sequence analysis of the CD40L gene. On physical examination, growth failure, bilateral fine crackles in both lungs, and hepatosplenomegaly were detected. The results of his liver function tests were abnormal, and a liver biopsy showed grade III fibrosis and compensated cirrhosis. After conditioning with treosulphan (12 g/m(2)/d x 3 d) and cyclophosphamide (50 mg/kg/d x 4 d), bone marrow from his HLA-identical sister was infused. CD40L expression on activated lymphocytes of the patient was 84% on day +21. His posttransplant period was uneventful. He is now at posttransplant 2 years, with full donor chimerism, and mild, chronic, graft-versus-host disease on his tongue. In conclusion, treosulphan is a new agent for conditioning regimen with less toxicity in patients with severe liver disease.
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PMID:CD40 ligand deficiency with grade III liver fibrosis, transplanted by a treosulphan-based conditioning regimen. 2196 64

Management of a patient with portal hypertension and hypersplenism who is scheduled for elective surgery is a challenge for anesthesia providers. We report a case that was scheduled for elective surgery in which preoperative splenic artery embolization improved the hematologic parameters. A 32-year-old woman was scheduled for total abdominal hysterectomy for multiple fibroids and menorrhagia with pancytopenia. She also had diagnoses of chronic liver disease with cirrhotic changes, portal hypertension, and grade IV Manageesophageal varices with hepatosplenomegaly. In view of pancytopenia, splenic artery partial embolization was done preoperatively. Her hematologic parameters improved, and she underwent surgery under general anesthesia with intrathecal morphine analgesia, uneventfully. The condition of patients with portal hypertension with associated hypersplenism and pancytopenia who are scheduled for elective surgery can be optimized with preoperative partial splenic artery embolization.
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PMID:Role of splenic artery partial embolization in a patient with portal hypertension and pancytopenia undergoing hysterectomy under anesthesia. 2258 77

Cholesterol ester storage disease (CESD) is a rare autosomal recessive lipid storage disorder associated with mutations of the gene encoding lysosomal acid lipase, manifestations of which include chronic liver disease and early atherosclerosis. Although normally presenting in childhood, severity is variable and the condition can occasionally remain undetected until middle age. Typical presentation is with asymptomatic hepatosplenomegaly and hyperlipidaemia, though the condition is probably underdiagnosed. Treatment is supportive and may include attention to cardiovascular risk factors. Phase I/II trials of enzyme replacement therapy are ongoing, but this approach remains experimental. We present the case of a 42-year-old woman diagnosed with CESD in childhood who ran an indolent course until re-presentation with cirrhotic hydrothorax. She underwent orthotopic liver transplantation but required re-transplantation for hepatic artery thrombosis. She remains well with excellent graft function 2 years later. Although atherosclerosis was apparent at assessment, and may have contributed to hepatic artery thrombosis, partial correction of the metabolic defect and restoration of liver function by transplantation together with ongoing medical therapy should permit reasonable survival over the longer term from both a liver and a vascular perspective. This is the first reported case of orthotopic liver transplantation for CESD in an adult, which was the only available option to improve survival. The case highlights the importance of monitoring patients with CESD through adulthood and suggests that liver replacement at a later stage may yet be indicated and remain of benefit.
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PMID:Orthotopic liver transplantation in an adult with cholesterol ester storage disease. 2343 May 18


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