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)

Hemochromatosis is a disorder of parenchymal iron overload. The diagnosis is based upon clinical manifestations, laboratory findings and iron concentration in liver. Magnetic resonance imaging (MRI) shows a decrease in liver signal intensity. Its role has not been already defined. Nonetheless, ratio of liver to muscle proton density (LMPD) shows a significant correlation with hepatic iron. One patient with a long-standing cirrhosis with data of hemochromatosis whose coagulation study did not allow to perform a liver biopsy was diagnosed with this method. Hepatic iron concentration was calculated based upon: microgram/g of hepatic iron = (-5.174* LMPD) + 9.932. MRI can be useful in the evaluation of hemochromatosis among patients who refuse or have contraindication to liver biopsy.
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PMID:[Diagnosis of hemochromatosis with magnetic resonance]. 1121 89

Hemochromatosis is a genetic disease of iron overload due to intestinal hyperabsorption of iron. It is one of the most prevalent autosomal recessive diseases in Caucasian populations. Hemochromatosis causes severe visceral and metabolic complications at adulthood, which include cirrhosis, diabetes, arthropathy and cardiac failure. A major breakthrough has been the discovery, in 1996, of the HFE gene which is strongly associated with the phenotypic expression of the disease. This discovery has, very quickly, provided a powerful genetic blood test which permits, in most cases, to establish the diagnosis in a non invasive way (i.e. without a liver biopsy). Hemochromatosis can be cured by repeated venesections provided the diagnosis has been detected sufficiently early. Moreover, an efficient preventive strategy can be applied to family members and should now be proposed to the general population. Finally, the identification of the HFE gene has paved the way for the identification of new iron overload entities.
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PMID:Hemochromatosis at the intersection of classical medicine and molecular biology. 1155 26

Hemochromatosis is a disorder of excess iron deposition in tissues that may cause multiorgan dysfunction. Because the early symptoms of hemochromatosis are nonspecific, the diagnosis is frequently overlooked until significant organ failure has developed. The primary cause of death in these patients is usually liver cancer related to cirrhosis. Patients who are candidates for liver transplantation should be referred for evaluation. For patients with severe cardiomyopathy, in addition to end-stage liver disease, combined transplantation may be performed. Although there is a limited number of combined heart-liver transplantations that have been performed, successful outcomes can be achieved with close monitoring and a multidisciplinary team approach. In this case report, we will discuss the prevalence, pathophysiology, and treatment of hemochromatosis and potential complications of combined heart-liver transplantation.
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PMID:Successful combined heart-liver transplantation in a patient with hemochromatosis. 1507 36

Hemochromatosis is a hereditary iron overload syndrome characterized by increased iron storage, followed by liver cirrhosis and is often associated with restrictive cardiomyopathy. The purpose of this study was to detect alterations of cardiac high-energy phosphate metabolism in patients with hereditary hemochromatosis (HHC) prior to the development of structural heart diseases. Therefore cardiac phosphorus-31 two-dimensional chemical shift imaging ((31)P 2D CSI) was employed. Twenty-four male patients (mean age 47.2 +/- 12 years) homozygous for the C282Y mutation in the hemochromatosis associated HFE gene and twenty-four male healthy volunteers (mean age 47 +/- 11 years) as age-matched controls were included in this study. Using a 1.5-Tesla whole-body magnetic resonance scanner, electrocardiograph-triggered transversal 31P 2D CSI was performed. Left ventricle mean phosphocreatine (PCr) to beta-adenosine triphosphate (beta-ATP) ratios of patients with HHC (1.60 +/- 0.41) were significantly decreased in comparison to healthy volunteers (1.93 +/- 0.36; p = 0.004). Furthermore, we detected moderate, negative correlations between left ventricular PCr to beta-ATP ratios and transferrin saturation, cholesterol, low-density lipoprotein as well as triglyceride. This study shows that 31P 2D CSI permits the detection of alterations of cardiac high-energy phosphate metabolism in patients with HHC, but without any evidence for heart disease. The decreased PCr to beta-ATP ratios in HHC might be caused by mitochondrial impairment due to cardiac iron overload.
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PMID:Cardiac phosphorus-31 two-dimensional chemical shift imaging in patients with hereditary hemochromatosis. 1512 Jan 71

The natural headless mummy of a young man from the Basilica of Saint Domenico Maggiore in Naples (16th century) showed at autopsy a well-preserved fibrous liver with a nodular surface, suggesting a case of cirrhosis. Stereo and light microscope study confirmed this diagnosis. To identify the possible etiology of this cirrhosis, additional techniques currently used in pathology were performed. Hemochromatosis and alpha1-antitrypsin deficiency were investigated without results. Investigation regarding Wilson's disease gave positive results, since the use of rhodamine staining, which is specific to detect the presence of copper in tissues, resulted in red-brown grains at light microscopy. The positive rhodamine test was invalidated by atomic absorption spectroscopy (AAS), which revealed normal copper levels in the tissues. These negative results and the clear and diffuse macronodularity of the liver suggest a case of post-necrotic cirrhosis.
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PMID:Juvenile cirrhosis in a 16th century Italian mummy. Current technologies in pathology and ancient human tissues. 1537 57

Hemochromatosis is a common genetic disease with a wide range of clinical expression: from no symptoms to cirrhosis of the liver. The discovery of the gene has led to a genetic blood test useful in the diagnosis of hemochromatosis. Treatment by phlebotomy is simple and efficient and can prevent the development of cirrhosis, leading to a normal life expectancy.
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PMID:Hemochromatosis. 1546 53

Hemochromatosis is an congenital metabolic disorder depending on increase in intestinal iron absorbtion. That result in many systemic disorders and organ failure including arthralgia, occuring usually between 30 and 50 year of life. These symptoms precede liver cirrhosis with few years. We are describing the case of 40 years man with seronegative arthritis diagnosed for hemochromatosis proven in further diagnostics.
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PMID:[Hemochromatosis--disease of concern of rheumatologist]. 1747 41

Hereditary Hemochromatosis (HH) is an iron overload syndrome caused by increased duodenal iron absorption, which leads to excessive iron deposition in parenchymal cells of the liver and mayor organs, causing cirrhosis, diabetes, cardiac failure, endocrine complications and arthritis. There are 6 types of HH related to mutations in the genes that encode proteins of iron metabolism. HH Type I is inherited as an autosomal recessive trait of mutations in HFE gene. We investigate the prevalence of C282Y, H63D and S65C mutations in 95 individuals (77 males, 18 females) bearing iron metabolism alterations to establish an early diagnosis of HH. Among this population, 58% carried mutations in the HFE gene (45 males, 10 females). H63D mutation was found in 32.6% of the subjects (29.5% in heterozygocity, 3.15% in homozygocity). S65C mutation was only detected in the heterozygous form (5.3% of the patients), 2 of them carried also H63D mutation. C282Y in heterozygocity was found in 15.8% of the individuals; but only 4.15% carried this mutation in homozygocity. Our findings are in agreement with the prevalence of the Mediterranean origin of most of our patients, where C282Y mutation is not as common as H63D mutation.
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PMID:HFE gene mutations in patients with altered iron metabolism in Argentina. 1965 48

We report the pattern of liver disease revealed by a study of liver biopsies of 277 adults aged 16-85 years old from January 1983 - December 1993. The most common histological diagnoses were: cirrhosis in 22.3%, chronic active hepatitis (CAH) 16.6%, hepatocellular carcinoma (HCC) in 7.2%, fatty changes in 12% of patients. Less common diagnoses included: Cholestasis in 8 (2.8%), Hemochromatosis in 7 (2.5%), periportal fibrosis in 4 (1.4%), Wilson's disease in 3 (1%), Alcoholic hepatitis in one patient and lymphoma in one patient. Inadequate specimens were encountered in 7 (2.5%). The commonest causes of liver cirrhosis were: Hepatitis C virus (HCV) in 73.3% of patients tested for it and hepatitis B virus (HBV) in 23.2%. Complications related to the procedures were exceedingly low. One patient, with Budd-Chiari Syndrome required emergency laparotomy to control bleeding. In conclusion, liver cirrhosis, CAH and HCC were common patterns of chronic liver disease in this series. HCV was the most common cause of CAH and liver cirrhosis.
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PMID:Pattern of liver disease in a Saudi patient population: a decade of experience at security forces hospital, Riyadh, KSA. 1986 42

Hemochromatosis has generally been considered to be a genetic disease in which progressive iron accumulation over many years can lead to cirrhosis of the liver, hepatocellular carcinoma, diabetes, cardiomyopathy, and arthropathy. Iron depletion by phlebotomy has been the recommended therapy although a randomized trial of phlebotomy versus no treatment has never been reported. Since the discovery of the HFE gene in 1996, it has been possible to predict the risk of developing iron overload by a simple blood test to detect C282Y homozygotes of the HFE gene. The application of the hemochromatosis genetic test in large population studies often initiated to investigate other diseases has provided a fascinating glimpse into the natural history of untreated C282Y homozygotes followed for over 20 years without phlebotomy treatment. These observations are summarized in this review article which raises questions about the need for phlebotomy in all C282Y homozygous patients.
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PMID:The natural history of untreated HFE-related hemochromatosis. 1990 50


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