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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Iron-deficient female Wistar rats were fed a diet, which contained 0.5% trimethylhexanoylferrocene, over a 56-week period. This dietary iron loading resulted in a progressive siderosis and enlargement of the liver with a maximum iron content of 947.0 +/- 148.0 mg (vs. 0.07 +/- 0.04 mg in iron deficiency) and a maximum organ weight of 39.4 +/- 6.6 g (vs. 6.9 +/- 1.4 g in iron-deficient control rats). Up to 43 weeks, whole liver iron rose by increase in iron concentration (max. 28.0 +/- 6.1 mg/g wet weight, w.w.) as well as by enlargement of the organ. Afterwards whole liver iron increased solely by ongoing hepatomegaly. At the commencement of iron loading, stainable iron was almost exclusively stored by hepatocytes equally throughout all areas of the liver lobule. Later, the distribution of iron-loaded hepatocytes became strikingly periportal, and, in addition, Kupffer cells as well as sinus-lining endothelia began to store iron. Animals with a liver iron concentration of more than 10.4 +/- 0.75 mg/g w.w. showed no further increase in ferritin and haemosiderin within hepatocytes. Iron-burdened Kupffer cells/macrophages, however, accumulated permanently, hereby forming intrasinusoidal and portal siderotic nodules and areas. First signs of liver damage such as necrosis of single hepatocytes and mild fibrosis began at a liver iron concentration of 14.7 +/- 1.4 mg/g w.w. With advancement of iron loading, focal necrosis of hepatocytes and iron-burdened macrophages took place, and significant perisinusoidal as well as portal fibrosis developed. Cirrhosis, however, the final stage of impairment in iron overload of the liver in humans, could not be induced in this animal model up to now.
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PMID:Iron overload of the liver by trimethylhexanoylferrocene in rats. 159 22

Eighty-eight patients with Hemoglobin (Hb) H diagnosed in our hospital in the past decade were reviewed. Among them, 37 were males and 51 were females, and their age ranged from 10 to 77 years. In physical examination, 43.3% of them showed to have jaundice, 47% had splenomegaly, 14% had hepatomegaly and 19.3% had gall stone. Hb electrophoresis revealed the presence of Hb H (1.4-40%), Hb F (23/88, range: 0.5-7.5%) and decreased Hb A2 (mean = 1.23 +/- 1.2%). The study of iron status showed increased serum ferritin concentration (mean = 421.4 +/- 343.7 ug/dl) and transferrin saturation ratio (53.9% +/- 20.5%). Hemosiderosis was found in three out of four patients received liver biopsy. Although most patients did not receive blood transfusion frequently, iron overload was not uncommon in the patients with Hb H disease. Further study would be needed to explore the true relationship between iron overload and Hb H disease.
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PMID:Hemoglobin H disease--ten years' experience. 216 37

A 12-year-old girl with congenital dyserythropoietic anemia, type I, was diagnosed as having hemochromatosis. Deferoxamine was given subcutaneously for 14 months. Iron overload, as measured by liver iron and serum ferritin levels, was reduced substantially, liver function tests improved, and hepatomegaly decreased. Toxicity was negligible.
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PMID:Use of subcutaneous deferoxamine in a child with hemochromatosis associated with congenital dyserythropoietic anemia, type I. 707 63

After successful bone-marrow transplantation (BMT) in thalassaemia, the individual acquires the pattern of globin synthesis of the donor. We call such an individual "ex-thalassaemic after BMT", a term that underscores the cure of the genetic defect but maintenance of residual signs of organ damage due to iron overload and dysfunction acquired during the pretransplant years. We have analysed the extent and fate of tissue iron overload in 151 ex-thalassaemic patients after BMT, according to the risk factors of hepatomegaly, hepatic portal fibrosis, and inadequate chelation therapy. Serum ferritin concentrations decreased and unbound iron binding capacity (UIBC) increased slowly during the years after the transplant. When analysed according to risk group (assigned at the time of the transplant), ferritin and UIBC returned within the normal ranges in only the low-risk group (without hepatomegaly or portal fibrosis, and with adequate chelation pre-BMT). Ferritin and UIBC were still abnormal 7 years after the transplant in the moderate-risk group (those with one or two risk factors) and highly abnormal in the high-risk group (all three risk factors) indicating persistence of, respectively, moderate and severe iron overload at the time of transplant. In ex-thalassaemic patients who were studied before and yearly after the transplant the extent of haemosiderosis, as judged by staining of liver biopsy samples, decreased during the years after transplant. The degree of iron deposition and rate of post-BMT linear growth seem to influence rate of post-BMT decrease in tissue iron overload in different risk groups at the time of BMT.
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PMID:Fate of iron stores in thalassaemia after bone-marrow transplantation. 790 61

Five weeks after a four-day visit to Malta, a 39-year old white male German national developed septic temperatures of up to 40 degrees C, progressive jaundice and a pronounced hepatosplenomegaly. The initial examination showed a very sick, somnolent patient with jaundice, cyanosis, tachypnea and a markedly enlarged liver on both physical examination and sonography. The laboratory evaluation revealed a moderate leukocytosis, markedly accelerated ESR, poor liver function with strongly elevated gamma-GT and alkaline phosphatase levels. Primary antibiotic therapy consisted of doxycycline. Ultrasound examination of the liver four days after admission revealed multiple hypodense abscesses. On the sixth day after admission, gram-negative rods were first isolated from blood cultures; antibiotic therapy was switched to ofloxacin (2 x 400 mg/day) and amoxycillin (3 x 2 g/day) after sensitivity testing. As a result of treatment with this combination of antibiotics, the patient was free of fever 10 days after hospitalization; on the same day yersinia enterocolitica was isolated from the first blood cultures taken on admission. The diagnosis of non-enteric forms of yersinia infection can prove very difficult, especially if the serology is not clear cut and there are no immunological complications. A presentation including intermittent fever, moderate leukocytosis, strongly accelerated ESR and multiple hypodense abscesses in the liver should lead one to consider a non-enteric type of yersinia infection. Hepatic abscesses usually occur in patients who have an iron overload.
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PMID:[Yersinia enterocolitica infection with extraintestinal manifestations: case report and overview]. 819 10

Early trials with the analysis of results in patients less than 16 years old have allowed us to identify three classes of risk using the criteria of degree of hepatomegaly, the degree of liver fibrosis, and the quality of chelation treatment given before transplant. The posttransplant disease-free survival for patients in risk classes I, II, and III and adults is today 93%, 85%, 64%, and 82%, respectively. Bone marrow transplantations, from mismatched donors and unrelated phenotypically identical donors are still experimental procedures. Bone marrow transplantation represents a desirable option of cure for severe forms of the disease when an HLA-identical donor is available. The posttransplant clinical follow-up of these patients is of particular interest in managing growth, endocrinal problems, iron overload, and normal quality and expectancy of life posttransplant. This purpose seems attainable particularly for those patients who have received transplants earlier, when histological damage of the liver and endocrine organs is not yet present.
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PMID:Bone marrow transplantation in the treatment of thalassemia. 937 Dec 77

The discovery of the hemochromatosis gene has deeply changed and simplified the diagnosis of the disease. In a given individual, establishing the diagnosis relies, from now on, on a simple blood sample showing the couple: elevated transferrin saturation and homozygous C282Y mutation (= C282Y +/+). Liver biopsy should only be performed when iron overload is massive in order to detect cirrhosis (or bridging fibrosis), i.e. in a prognostic view. Practically, liver biopsy is confined to the following two situations: when the C282Y +/+ patient exhibits hepatomegaly and/or an increase in serum transaminases and/or a serum ferritin level above 1,000 micrograms/L; whenever, despite a strong bio-clinical suspicion of iron overload, genetic testing does not show the expected homozygosity for C282Y. At the family level, evaluating the risk for hemochromatosis is now "instantaneous" thanks to genetic testing. One must, however, keep in mind in interpreting the data of the family members that: clinical expression of the homozygous status is not constant; heterozygosity for C282Y does not per se lead to significant iron overload, but may constitute a co-factor exacerbating (or increasing the risk of) other hepatic or non hepatic diseases. Heterozygosity exposes also to the risk of homozygosity among the offspring; this knowledge of C282Y status must be balanced by the negative impact from the standpoint of possible societal genetic discrimination.
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PMID:[The diagnosis of hemochromatosis in the era of the gene]. 1052 Apr 12

We studied peripheral blood erythrocyte parameters and HFE genotypes in 94 hemochromatosis probands and 132 white, normal control subjects. Mean red blood cell counts in probands and control subjects were not significantly different. However, mean values of hemoglobin, hematocrit, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC) were significantly higher in C282Y/C282Y probands (n = 60) than in wild-type control subjects (n = 65). Probands with other HFE genotypes also had increased mean erythrocyte parameters (other than red blood cell count). Peripheral blood smears prepared before therapeutic phlebotomy revealed that erythrocytes in many probands had increased diameters and were well filled with hemoglobin. Erythrocyte parameters were similar in C282Y/C282Y probands with and without hepatomegaly, elevated serum concentrations of hepatic enzymes, hepatic cirrhosis, diabetes mellitus, arthropathy, or hypogonadism. Among C282Y/C282Y probands, significantly greater values of MCV (but not other erythrocyte parameters) occurred among those who had transferrin saturation values of 75% or greater or iron overload at diagnosis. After iron depletion, the mean MCV, MCH, and MCHC values of C282Y/C282Y probands decreased but remained significantly greater than values in wild-type control subjects. Mean values of prephlebotomy MCH and MCHC concentrations were lower in HLA-A3-positive than in HLA-A3-negative C282Y/C282Y probands. We conclude that increased values of mean hemoglobin, hematocrit, MCV, MCH, and MCHC in hemochromatosis probands are caused primarily by increased iron uptake and hemoglobin synthesis by immature erythroid cells. Mechanisms of iron uptake by erythrocytes that could explain these results are discussed.
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PMID:Peripheral blood erythrocyte parameters in hemochromatosis: evidence for increased erythrocyte hemoglobin content. 1063

Genetic hemochromatosis is an autosomal recessive disease, characterized by an increased iron absorption, leading to progressive iron overload. The fully expressed phenotype comprises fatigue, skin pigmentation, liver disease with hepatomegaly, cirrhosis and hepatocellular carcinoma, and diabetes. Arthralgias are frequent, cardiopathy or impotence may occur. This presentation is now unfrequent with earlier diagnosis, and patients are often asymptomatic--with only biochemical expression--or pauci-symptomatic (mild fatigue, arthralgias or increased transaminases). Transferrin saturation is always increased. Serum ferritin is proportional to iron burden. Diagnosis is now easy, since most patients are homozygote for the C282Y mutation of the HFE gene. Liver biopsy can be useful to quantify iron overload and assess liver fibrosis. The disease can be lethal due to liver disease, carcinoma or heart disease, but life expectancy goes to normal if patients are treated before the occurrence of cirrhosis. Treatment relies on regular venesections. Familial screening is essential.
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PMID:[Diagnosis and treatment of genetic hemochromatosis]. 1086 97

Hemochromatosis is one of the most frequent genetic diseases among the white populations, affecting one in three hundred persons. Its diagnosis has been radically transformed by the discovery of the HFE gene. In a given individual, the diagnosis can, from now on, be ascertained on the sole association of a plasma transferrin saturation (TS) over 45% and homozygosity for the C282Y mutation. Liver biopsy is only required to search for cirrhosis whenever there is hepatomegaly and/or serum ferritin >1000 ng/ml and/or elevated serum AST. Family screening is mandatory, primarily centered on the siblings. The treatment remains based on venesection therapy which improves many features of the disease (one of the most refractory, however, being the joint signs) and permits normal life expectancy provided the diagnosis is established prior to the development of cirrhosis or of insulin-dependent diabetes. In view of the prevalence, the non-invasive diagnosis, the spontaneous severity and the efficacy of a very simple therapy, hemochromatosis should benefit from population screening. This screening could be based, first, on the assessment of transferrin saturation, followed - when elevated - by the search for the C282Y mutation. The discovery of the HFE gene has also paved the road for the individualization of other types of iron overload syndromes which are not HFE-related.
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PMID:Clinical aspects of hemochromatosis. 1109 95


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