Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In three patients arthropathy was the earliest symptom of hemochromatosis. Two of these patients had a precirrhotic stage of hemochromatosis. The liver histology of the third patient showed a beginning cirrhosis. The serum iron ranged from 212 to 260 micrograms/dl. The transferrin saturation was 95-100%. Serum iron and transferrin should be determined in all patients with arthralgias, since arthropathy may be the first clinical sign of hemochromatosis.
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PMID:[Joint diseases as the early clinical symptom of hemochromatosis]. 721 95

In a prospective trial with 120 chronic alcoholics (July, 1978 to January, 1980) on admission the following haematological values significantly different from those of the normal population were found: elevated erythrocyte mean corpuscular volume (64%), increased mean corpuscular hemoglobin (32%), thrombocytopenia (48%), increased percentage of bone marrow sideroblasts (35%), decreased percentage of sideroblasts (37%), megaloblastic bone marrow changes (55%) including nuclear abnormalities (32%), and vacuolization in red cell (20%) and white cell (16%) precursors. These changes were independent of liver cirrhosis with hypersplenism (increased mean corpuscular volume in 52% of the patients who did not have liver cirrhosis, increased mean corpuscular volume in 76% of the patients who were cirrhotic but not suffering from major bleeding). Platelets returned to normal values within 6 days of discontinuation of alcohol ingestion. In respect to iron metabolism we found the following changes: decreased serum iron concentration (32%), increased iron concentration (42%), increased total iron binding capacity (54%), increased ferritin (41%), decreased transferrin (20%). In contrast to data from the Anglo-American literature, serum folate concentrations were mostly normal in our patients (87%). This may be due to different eating and drinking habits. The percentage of bone marrow sideroblasts was also lower in our patients than those described in the literature mentioned above. The changes in maturation are likely to be caused partially by a toxic effect of alcohol on nuclear metabolism of bone marrow cells.
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PMID:[Alcohol induced changes in hemopoiesis (author's transl)]. 731 98

We identified 35 homozygotes for hemochromatosis through pedigree studies. Thirteen were asymptomatic. Arthropathy was present in 20, hepatomegaly in 19, transaminasemia in 16, skin pigmentation in 15, splenomegaly in 14, cirrhosis in 14, hypogonadism in six, and diabetes in two. No homozygote was in congestive failure. Only one had the triad of hepatomegaly, hyperpigmentation, and diabetes. Serum iron was increased in 30 of 35, transferrin saturation was increased in all 35, serum ferritin in 23 of 32, urinary iron excretion after deferoxamine in 28 of 33, hepatic parenchymal cell stainable iron in 32 of 33, and hepatic iron in 27 of 27. Iron loading was 2.7 times greater in men than in women. No female had hepatic cirrhosis. Diagnosis of asymptomatic hemochromatosis is important because organ damage may be prevented by early therapy. Clinical diagnosis of early hemochromatosis is difficult. Persons with unexplained elevation of transferrin saturation should be studied for hemochromatosis.
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PMID:Homozygosity for hemochromatosis: clinical manifestations. 743 83

Although hereditary hemochromatosis is an autosomal recessive disease, most homozygotes are concerned with the genetic implications for their children. The optimal age for testing children and the cost implications of screening their children have not been clearly established. A clinical database consisting of 255 children from families with at least one homozygote is used to assess the prevalence of homozygotes among children of homozygous parents and to review the biochemical abnormalities and life-threatening symptoms in these young adults. Decision analysis is used to estimate the cost and utility of screening children of a homozygous parent. Eleven homozygotes were discovered among children of homozygotes. Only one male had a life-threatening event, cirrhosis. Decision analysis estimated cost saving of $12 per child screened ($ net present value) and a saving of 10 quality-adjusted days per child screened at age 10 years compared with not screening. If screening began at age 20 years, there is a cost saving of $65 per child screened. Sensitivity analysis showed that the major factors influencing cost savings were the cost of venesections, sensitivity and specificity of the screening tests, and prevalence of disease. Because the prevalence of hemochromatosis is higher in children of homozygotes than in the general population, screening with transferrin saturation and ferritin as early as age 10 years is recommended. Savings are augmented if the cost per venesection is eliminated by allowing hemochromatosis patients to become voluntary blood donors.
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PMID:Screening for hemochromatosis in children of homozygotes: prevalence and cost-effectiveness. 748 80

Carbohydrate-deficient transferrin (CDT) has been proposed as a marker of alcoholism. However, its role in monitoring alcoholic patients for relapse has not been extensively studied. We therefore performed sequential serum CDT measurements using a microcolumn/radioimmunoassay method (Kabi Pharmacia, Piscataway, NJ) in 86 male alcoholics participating in a hepatitis vaccination program who were monitored for relapse using self-report and collateral history (when available). The maximum serum CDT was significantly higher in patients who relapsed (n = 38) (33.1 +/- 3.1 mg/liter), as compared with abstinent subjects with collateral verification (n = 39) (18.8 +/- 1.3, p < 0.001) and abstinent patients without collateral verification (n = 9) (17.4 +/- 1.3, p < 0.01). Using the manufacturer's currently recommended threshold of 20 mg/liter for males, serum CDT was elevated in 29 of 38 patients who relapsed (sensitivity 76.3%). In 16 (42.1%) of the relapsed patients, a serum CDT above this threshold preceded the patient's self-report by at least 28 days. However, serum CDT exceeded 20 mg/liter in 10 of 48 patients who remained sober (specificity 79.2%); three of these patients had clinical and/or pathological evidence of cirrhosis. Using a threshold of 25 mg/liter, 21 of 38 patients who relapsed had an elevated serum CDT (sensitivity 55.3%); 12 (31.6%) of these patients had elevated serum CDT before self-report. Only 4 of 48 subjects who remained sober had serum CDT levels that exceeded 25 mg/liter (specificity 91.7%); three of these patients had clinical and/or pathological evidence of cirrhosis. In conclusion, serial serum CDT testing detects relapses before self-report in male subjects. Values between 20-25 mg/liter suggest relapse, but call for collateral verification, whereas CDT values above 25 mg/liter are usually diagnostic of relapse in the absence of cirrhosis.
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PMID:Utility of carbohydrate-deficient transferrin as a marker of relapse in alcoholic patients. 757 82

Assessment of the galactose elimination capacity has appeared to represent an suitable index of the total metabolic capacity of the liver inflicted with chronic hepatopathy. In a more severe disease e.g. cirrhosis hepatis the GEC assessment enabled to judge appropriately the among of hepatic tissue reduction which does not necessarily have to correspond with the grade according to Child-Pugh classification. It represents an helpful criterion also for a smaller decrease of the functional capacity of the liver, e.g. in moderate forms of hepatopathies, as e.g. steatosis and steatofibrosis hepatis, chronic active hepatitis. By means of examinations of the hepatic proteosynthetic function indices it was discovered that the level of prealbumin and the activity of cholinesterase are more sensitive parameters of the functional ability of impaired liver in comparison with albumin, prothrombin complex and transferrin. Assessment of prealbumin and cholinesterase in the group of patients with cirrhosis hepatis enabled the most significant mutual distinction of differently severe grades, in three differing subgroups of cirrhotic patients (Ci A, Ci B and Ci C). The presented parameters were significantly distinct also in groups of patients with chronic active hepatitis, and steatosis and steatofibrosis of the liver. (Fig. 6, Tab. 1, Ref. 29.)
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PMID:[The galactose eliminating capacity of the liver and its protein synthesis function in chronic liver diseases]. 781 45

Hereditary hemochromatosis is a common disorder of iron metabolism with a prevalence as high as 8 per 1000. Affected individuals absorb excessive amounts of dietary iron and over time, tissue iron deposition results in skin discoloration, arthropathy, hepatic cirrhosis, heart failure, diabetes mellitus and impotence. Early diagnosis and institution of phlebotomy treatments will prevent these manifestations and normalize life expectancy. Once organ damage is established many of the manifestations are irreversible. Since the early manifestations of the disease are subtle, a case can be made for routine screening. This conclusion is supported by cost-effectiveness analysis based on available data. A reasonable screening strategy would start with a serum transferrin saturation. A value > or = 55% should trigger a repeat transferrin saturation in a fasting state and a serum ferritin level. If both these tests are abnormal, a liver biopsy with quantitative iron determination is the currently accepted confirmatory test.
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PMID:Management of hereditary hemochromatosis. 788 27

Patients with alcoholic hepatic cirrhosis have a higher predisposition to acquiring infections than healthy individuals, suggesting an alteration in the immune system. They also exhibit an important decrease in certain plasmatic constituents such as zinc, albumin, and transferrin which are involved in the normal immune response. The blastoid transformation of lymphocytes stimulated in vitro with phytohemagglutinin M and P in patients with alcoholic hepatic cirrhosis was studied and the results were correlated with the plasmatic constituents aforementioned. The rate of blastoid transformation was significantly lower (p < .001) in these patients when compared to the control group, but did not correlate directly with the concentration of zinc, albumin, transferrin or circulating globulins. Patients' plasma significantly inhibited the response of normal cells to stimulation with phytohemagglutinin and Concanavalin A; nevertheless, the blastoid transformation of lymphocytes in these patients was not restored to normal levels when incubated with control plasma.
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PMID:Patients with hepatic cirrhosis: altered lymphocyte response to mitogens and its relation with plasmatic zinc, albumin and transferrin. 801 12

The appearance of desialo-transferrin (De-TF) in serum has been reported to be a biochemical marker of chronic alcoholism. However, conclusive evidence of whether De-TF is a marker for chronic alcohol drinking or for alcoholic liver disease (ALD) has not yet been obtained. Glycoproteins can be divided into two groups, a transferrin (TF) group and an alpha 1-acid glycoprotein (A1-AG) group, based on the characteristics of microheterogeneity (M-HTG) of each protein. In the present study, the appearance of M-HTG in serum TF and A1-AG in alcohol drinkers was compared. In 96 patients with ALD, M-HTG of TF was found in 66 patients (68.8%), and M-HTG of A1-AG was found in 61 patients (63.5%). In 20 patients with alcoholic pancreatitis, the detection rate of M-HTG of A1-AG was significantly higher than that of TF. In six patients with pancreatitis but not liver disease, M-HTG of TF was not detected. In 14 alcoholics without liver or pancreas disease, M-HTG of TF was not detected, whereas M-HTG of A1-AG was detected in 6 cases--a significant difference. The amount of alcohol consumed was not different in patients with and without liver disease. In non-ALD, M-HTG of both proteins was detected only in patients with decompensated liver cirrhosis. The detection rate of M-HTG in TF was significantly higher than in A1-AG. These results suggest that M-HTG of serum TF is a marker of ALD and that of serum A1-AG is a marker of chronic alcohol drinking.
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PMID:Microheterogeneity of serum glycoproteins in alcoholics: is desialo-transferrin the marker of chronic alcohol drinking or alcoholic liver injury? 804 44

During the period 1986-93 22 patients were diagnosed as having primary hemochromatosis. Only 11 of them had elevated aminotransferases. Transferrin saturation was higher > 63% in 17 (77%) and serum-ferritin was higher in all the patients. (257 mumol/l to 6,500 mumol/l). A percutaneous liver biopsy was performed in 20 patients, all of whom showed a characteristic grading from 2 + to 4+ using Perls' stain. Two males had cirrhosis with simultaneous hepatocellular carcinoma, and another two had cirrhosis. One patient had diabetes mellitus type I. We conclude that fasting serum-iron and transferrin should be determined in all subjects over 40 years of age and in patients with chronic elevation of liver enzymes. If transferrin saturation is higher than 50% in females and 60% in males, serum ferritin should be determined. A percutaneous liver biopsy should be performed if both values are higher than normal. Screening of siblings is important because of the autosomal recessive pattern of inheritance.
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PMID:[Clinical experience with early hemochromatosis]. 807 82


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