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)

Among 424 children with liver disease, 20 had alpha1-antitrypsin deficiency associated with protease inhibitor ZZ phenotype. This disorder manifested itself as cholestasis in early infancy in 19 children. Jaundice and pruritus cleared in 16 of these by 7 months of age, but hepatomegaly and laboratory evidence of mild hepatic dysfunction persisted in all. Biliary cirrhosis and portal hypertension eventually developed or was suspected in eight, and hypoplasia of intraheptic bile ducts was demonstrated in another four. Routine screening revealed intermediate alpha1-antitrypsin deficiency in 16 other children with various types of liver disease. The phenotype in these patients was MZ, MS, or SZ. PAS-positive granules were present in liver of all patients with the ZZ phenotype and in none with other phenotypes. The findings indicate that manifestations and prognosis of this inherited liver disease are extremely variable.
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PMID:Alpha1-antitrypsin deficiency and liver disease in children: phenotypes, manifestations, and prognosis. 108 71

The development of the syndrome of chronic intrahepatic cholestasis in five young, black men who had systemic granulomatous disease and clinical features consistent with those of sarcoidosis is described. Clinical and biochemical aspects, similar to those of primary biliary cirrhosis, included pruritus, jaundice, hepatomegaly and striking elevations of serum levels of alkaline phosphatase and cholesterol. (One patient had skin xanthomas.) Mitochondrial antibodies were not found; and survival of the patients (7 to 18 years) exceeded the usual survival of patients with primary biliary cirrhosis. The histologic abnormalities included noncaseating granulomas, chronic intrahepatic cholestasis, increased copper in hepatocytes, progressive diminution in number of interiobular bile ducts, periportal fibrosis and the eventual development of a micronodular "biliary" cirrhosis. The histologic evolution of the disease suggests a slow, progressive destruction of the bile ducts by granulomas. Although the end stage of this syndrome resembles primary biliary cirrhosis, the characteristic nonsuppurative, destructive cholangitis of primary biliary cirrhosis was not present.
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PMID:Chronic intrahepatic cholestasis of sarcoidosis. 116 46

Twenty-two patients with clinical, biochemical, immunological and pathological characteristics compatible with primary biliary cirrhosis were studied. There were 17 women and 5 men with a mean age of 57.4 +/- 15.2 years and a mean follow-up of 24.1 +/- 20.1 months. Four of them expired during the follow-up and eighteen patients now survive. The most common complaints were fatigue (63.6%) and itching (59.1%). Only one case (4.5%) was asymptomatic in this series. The major physical findings were jaundice (50%) and hepatomegaly (50%). The significant laboratory findings were: elevation of alkaline phosphatase (91% of the cases greater than 3 times the upper limit of normal), gamma-glutamyl transpeptidase (100% of the cases greater than 4 times the upper limit of normal), aspartate transaminase (95%) and alanine transaminase (100%), presence of anti-mitochondrial antibodies (91%), antinuclear antibodies (73%) and the elevation of IgM (88%). One case was associated with ulcerative colitis. Pathological staging in this series revealed 57.9% of stage II, 26% of stage III, 10% of stage IV and 5.3% of stage I. All patients with granuloma survived but 4 of the 5 patients with cholestasis died during follow-up. The results show that the features in this series of PBC were similar to those observed in western countries. The very high ALP and gamma-GT level as well as only one asymptomatic case in this series, suggest that our patients were diagnosed at a late stage. The reason(s) for the higher positivity of ANA, particularly the speckled type and a lower rate of associated auto-immune disease requires further study. Liver biopsy in predicting a prognosis is valuable.
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PMID:[A clinicopathological study in primary biliary cirrhosis]. 135 58

Seven women, mean age 47.7 years, with primary biliary cirrhosis (6 patients in the II-III stage and I patient in IV stage of the disease) were treated in the course of 16 months with ursodeoxycholic acid (Ursofalk) 500 mg daily. At the end of the 3-d month of treatment the itching had passed in 3 of the patients and in the remaining 4 patients it had substantially decreased. In all patients the subjective complaints, dyspeptic syndrome, appetite and sleep improved. The serum concentrations of bilirubin, copper and cholesterol started to decrease and the serum activity of the enzymes alkaline phosphatase, ALAT and ASAT also decreased. In one patient the treatment was discontinued in the 6-th month because of allergic reaction. After 16 month treatment in the 6 patients who completed the treatment the itching passed and the working capacity improved. The serum concentrations of bilirubin, cholesterol, copper and IgG significantly fell (p less than 0.01), the serum activity of alkaline phosphatase, gamma glutamyl transpeptidase, ALAT and ASAT fell near the upper normal range. The hepatomegaly, splenomegaly, McLagan's flocculation test, serum concentration of IgM and the titer of the specific antimitochondrial antibodies (M2) did not change in spite of the treatment. The results show the ursodeoxycholic acid as a perspective therapeutic means for primary biliary cirrhosis which lowers or overcomes the syndrome of intrahepatic cholestasis and limits the activity of the cirrhotic process in the liver. Ursodeoxycholic acid is well tolerated.
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PMID:[The treatment of primary biliary liver cirrhosis with ursodeoxycholic acid (preliminary report)]. 177 66

The preceding discussions outline the various forms of cirrhosis that may be encountered in the elderly population. Cirrhosis is not uncommon in older patients. Although it has been stated that most cirrhosis in the elderly is due to alcohol, these assumptions are perhaps overestimations. In the authors' experience, many older patients are inappropriately labeled with alcoholic liver disease--presumed guilty until proven otherwise--and have subsequently been shown to have nonalcoholic liver disease. Careful investigation is required. Hepatotoxic drug exposure (e.g., to alpha methyldopa, nitrofurantoin, or isoniazid) should be ruled out, and hepatitis B and hepatitis C serology obtained. Primary biliary cirrhosis may occur in both sexes, and thus antimitochondrial antibody should be assayed. Severe heart disease may result in cardiac cirrhosis in the elderly, with ascites and hepatomegaly. Alpha 1-antitrypsin deficiency, primary sclerosing cholangitis, idiopathic hemochromatosis, and chronic autoimmune hepatitis may result in advanced cirrhosis in the elderly; appropriate serum studies should be obtained. If questions remain and if therapy may be changed, liver biopsy can be performed. A recent study suggested, however, that the risk of hemorrhage from liver biopsy in the elderly may be increased, especially if malignancy is present. The era of treatment for liver diseases has arrived. Colchicine, methotrexate, ursodeoxycholic acid, and others have shown promise in the treatment of PBC, primary sclerosing cholangitis, and alcoholic liver disease. Corticosteroids may be lifesaving in autoimmune liver disease. Phlebotomy remains the treatment of choice for hemochromatosis in any age group. Interferons and other antiviral agents are being used in chronic type B and type C hepatitis. Treatment of the complications of cirrhosis in the elderly may be safely accomplished. Advanced age is not a contraindication to variceal sclerotherapy. Vasopressin, however, may be contraindicated in the elderly patient if there is an underlying history of atherosclerotic coronary or peripheral vascular disease. Large-volume paracentesis and peritoneal venous shunting can afford symptomatic relief of ascites, even in the geriatric population. Finally, as noted previously, advanced age is no longer to be considered an absolute contraindication for liver transplantation. The evaluation of liver disease in the elderly may be diagnostically challenging, and its treatment rewarding.
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PMID:Liver diseases in the elderly. 185 64

Thirty-five patients with primary biliary cirrhosis were seen between 1974 and 1989. The median mean age at presentation was 53 years (range: 30-77) and the female to male ratio was 7.8:1. Thirteen (37%) were asymptomatic and nine (26%) had associated auto-immune disorders. Pruritus and hepatomegaly were present in half of the patients. Advanced histological stages of disease (Stages 3 and 4) were present in 57% of patients. The median period of follow-up was 5 years (range: 0.1-20). Twelve patients died, nine from hepatic causes and three from non-hepatic causes. One has undergone liver transplantation. A Kaplan-Meier curve estimated the median survival to be 11 years. Asymptomatic patients developed progressive disease and survival was similar to that of symptomatic patients. Using Cox's proportional hazards model, age, serum bilirubin and serum albumin were found to be independent prognostic variables correlating with reduced survival.
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PMID:Primary biliary cirrhosis: clinicopathological characteristics and outcome. 212 33

To determine survival and the risk factors of death in primary biliary cirrhosis, data from 52 symptomatic and 13 asymptomatic patients were analyzed. The mean follow-up time was 6.3 years (range, 0.4-23 years). The average length of survival was 18 years for the symptomatic and 8.4 years for the asymptomatic patients. By a univariate analysis, ascites, presence of esophageal varices, gastrointestinal bleeding, jaundice, hepatomegaly and the logarithms of albumin and bilirubin were all associated with a poor prognosis. A multivariate analysis of the clinical features showed that the presence of bleeding from esophageal varices and the logarithm of bilirubin were the only predictors for poor prognosis. The survival of the symptomatic patients is longer than reported previously, while the life expectancy for the asymptomatic patients seems no better than for the symptomatic group.
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PMID:Factors of prognostic importance in primary biliary cirrhosis. 230 9

Primary biliary cirrhosis (PBC) or chronic non-suppurative destructive cholangiohepatitis is rare in southern Africa. Eight patients with this diagnosis were identified and fully investigated at Groote Schuur Hospital between 1980 and 1988. Seven patients were female, all were white or coloured, and their ages ranged from 49 years to 80 years. All patients presented with a history of malaise, fatigue, night sweats and pruritus, which had been present for 3 months--12 years before diagnosis of PBC. Initial misdiagnosis had resulted in unnecessary invasive investigations including laparotomies. Signs of chronic liver disease, such as xantholasmas, evidence of pruritus, the sicca syndrome or hepatomegaly, were invariably present. Marked elevation of serum alkaline phosphatase level and IgM were present in all cases. Antimitochondrial antibodies were positive in significant titre in 7 of the 8 patients. Liver biopsies demonstrated stage II-III disease in all patients. Therapy was chiefly supportive and symptomatic although most patients received immunosuppressive agents. Despite the late presentation, the subsequent course was similar to that seen elsewhere where patients are recognised earlier.
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PMID:Primary biliary cirrhosis. A retrospective survey at Groote Schuur Hospital, Cape Town. 236 77

The clinical features and outcome of primary biliary cirrhosis (PBC) during long-term follow-up study (mean, 9 years; range, 1-20 years) was reviewed in 80 patients. Seventy per cent were asymptomatic at initial presentation. The mortality in the symptomatic group was 63%, compared with 20% in the asymptomatic group (p less than 0.001). The presence of hepatomegaly and histopathology consistent with stage 2-4 in asymptomatic cases was a prognostically ominous sign, as these patients often developed symptoms (p less than 0.001). The finding of histopathology consistent with stage 1, however, was correlated with an excellent prognosis with respect to both symptoms and mortality. Only 11% of these stage 1 patients became symptomatic, and none died (p less than 0.001). The mean age of symptomatic and asymptomatic patients did not differ. Moreover, the age distribution of asymptomatic patients with early histopathology and those patients with more advanced histopathology did not differ. This may indicate that asymptomatic PBC consists of subgroups with an active disease of various degrees.
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PMID:Primary biliary cirrhosis: clinical features and outcome, with special reference to asymptomatic disease. 292 24

Ten patients with primary biliary cirrhosis (PBC) were clinically followed under the conditions of follow-up care. The diagnosis of the patients was made vie biochemical immunologic, histological and instrumental investigations. The average term for follow up was 4 years and 5 months. All patients were actively checked up by summoning every 6 months. The average incidence of hospitalization at the clinic was 1 year and 5 months. Pruritus preceded all other symptoms--1 year and 11 months on the average. Jaundice was established 1 year and 7 months after the manifestation of pruritus and the dirty greyish pigmentation of the skin--1 year and 11 months after pruritus. Hepatomegaly was established 1 year and 7 months after pruritus. Increased alkaline phosphatase, blood bilirubin and cholesterol were observed in all patients and increase of IgM in 80 per cent, and antimitochondrial antibodies--in 70 per cent. Xanthelasma and xanthoma were found only in patients with high levels of cholesterol and total fats. The treatment with dihydrocortison induced stomach complaints (erosive gastritis), intersifying bone chanes in 20 per cent of the patients. X-ray and instrumental methods have a relative value in making the diagnosis of PBC. It could be concluded from the complex treatment that corticosteroids give complications and the treatment with cholestiramine--to attenuation of pruritus. The average survival after making the diagnosis is 6 years.
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PMID:[Clinical-dispensary finding of patients with primary biliary cirrhosis]. 293 78


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