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Your search term(s) "hemochromatosis" returned 47 results.

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Hereditary Hemochromatosis: Early Detection of a Common Yet Elusive Disease. Consultant. 42(2): 237-249. February 2002.

About 1 in 200 persons in certain populations of northern Europe descent has hereditary hemochromatosis. Persons with this disease are predisposed to absorb excess iron from the gastrointestinal tract; the excess iron deposits in the organs (including the liver) and produces clinical symptoms including diabetes, cirrhosis (liver scarring) and heart failure. This article discusses the early detection of this common, yet elusive, disease. The three most common symptoms are fatigue, arthralgia (pain in the joints), and libido (sex drive) loss. Radiographic (x ray) findings can mimic those of osteoarthritis (OA); however, OA in unusual sites, in large non-weightbearing joints, or in a patient younger than 50 years can be clues to hereditary hemochromatosis. Diabetes develops in about 50 percent of affect patients, but the well known finding of bronze diabetes (skin hyperpigmentation) occurs late in the disease. The first phenotypic expression of hereditary hemochromatosis is an elevated transferrin saturation (TS). When fasting TS is greater than 45 percent, patients should have tests for serum ferritin levels, liver function, and genetic testing for the mutations associated with hemochromatosis (C282Y and H63D). Liver biopsy can help differentiate between hereditary hemochromatosis and other causes of liver disease. However, genetic testing may obviate the need for liver biopsy in selected cases. Treatment consists of dietary restrictions and therapeutic phelobotomy (blood removal) to keep ferritin levels low. First degree adult relatives of patients with hereditary hemochromatosis should also undergo screening for the condition. The article includes a patient care algorithm. 3 figures. 1 table. 7 references.

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Iron Overload States. In: Sherlock, S.; Dooley, J. Diseases of the Liver and Biliary System. Malden, MA: Blackwell Science, Inc. 2002. p.399-411.

The causes of iron overload can be broadly separated into those with a clear genetic mechanism, those associated with another pathology, and a small group of intermediate conditions where there appears to be an interplay between genetic and acquired mechanisms. Iron overload as a result of liver or hematological (blood) disease is not uncommon and genotyping now allows these to be clearly separated from genetic hemochromatosis. This chapter on iron overload states is from a textbook that presents a comprehensive and up-to-date account of diseases of the liver and biliary system. The chapter covers normal iron metabolism, iron overload and the resulting liver damage, genetic hemochromatosis, and other iron storage diseases, including non-HFE-related inherited iron overload, dysmetabolic syndrome, erythropoietic siderosis, late stage cirrhosis, chronic viral hepatitis, non-alcoholic fatty liver disease, neonatal hemochromatosis, African iron overload (Bantu siderosis), porphyria cutanea tarda, hemodialysis, acaeruloplasminemia, and transferrin deficiency. 6 figures. 1 table. 99 references.

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Molecular Aspects of Iron Absorption: Insights into the Role of HFE in Hemochromatosis. Hepatology. 35(5): 993-1001. May 2002.

Hereditary hemochromatosis is the most common genetic disorder occurring in persons of northern European descent, and the clinical hallmark of the disease is the gradual accumulation of iron in internal organs, especially the liver, heart, and pancreas, which ultimately leads to organ failure. HFE, the gene that is defective in the majority of cases, was identified in 1996 and, although the exact role that HFE plays in the uptake and utilization of iron is not yet clear, important aspects of HFE function are emerging. This article reviews these new insights into the role of HFE in hemochromatosis. Identification and studies of new proteins involved in the absorption of iron in the gut and in somatic cells has led to a clearer picture of how humans absorb iron from the diet and regulate this absorption to meet metabolic needs and to balance body iron stores. The author focuses on the molecular aspects of iron absorption and the role that HFE may play in these processes. 3 figures. 1 table. 62 references.

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Recognition and Management of Hereditary Hemochromatosis. American Family Physician. 65(5): 853-860. March 1, 2002.

This article addresses the recognition and management of hereditary hemochromatosis, the most common single-gene disorder in people of northern European descent. Hereditary hemochromatosis is characterized by increased intestinal absorption of iron, with deposition of the iron in multiple organs, including the liver. Previously, the classic description was combined diabetes mellitus, cutaneous hyperpigmentation (discoloring of the skin, usually to bronze), and cirrhosis (liver scarring). Increasingly, however, hereditary hemochromatosis is being diagnosed at an earlier, less symptomatic stage. The diagnosis is based on a combination of clinical, laboratory and pathologic findings, including elevated serum transferrin saturation. Life expectancy is usually normal if phlebotomy is initiated before the development of cirrhosis or diabetes mellitus. Hereditary hemochromatosis is associated with mutations in the HFE gene. Between 60 and 93 percent of patients with the disorder are homozygous for a mutation designated C282Y. The HFE gene test is useful in confirming the diagnosis of hereditary hemochromatosis, screening adult family members of patients with HFE mutations, and resolving ambiguities concerning iron overload. 3 figures. 5 tables. 34 references.

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Role of Hemochromatosis Susceptibility Gene Mutations in Protecting Against Iron Deficiency in Celiac Disease. Gastroenterology. 123(2): 444-449. August 2002.

Celiac disease and hereditary hemochromatosis (HH) are common HLA-defined conditions in northwestern Europe. This article reports on a study undertaken to determine whether there is a genetic relationship between the 2 diseases and if hemochromatosis susceptibility gene (HFE) mutations are protective against iron deficiency in celiac disease. HFE gene mutations (H63D or C282Y) were identified in 70 celiac patients (48.3 percent) and 61 controls (32.5 percent). The authors conclude that in celiac disease, HFE gene mutations are common and are in linkage disequilibrium with different HLA alleles compared with controls. The authors propose that HFE gene mutations provide a survival advantage by ameliorating the iron deficiency seen in celiac patients. 4 tables. 30 references.

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Diagnosis and Management of Hemochromatosis. Hepatology. 33(5): 1321-1328. May 2001.

Hereditary hemochromatosis (HH) is a disorder characterized by iron accumulation in the body's organs; if left untreated, iron overload can result in organ damage. This article presents the AASLD (American Association for the Study of Liver Diseases) Practice Guidelines for the diagnosis and management of hemochromatosis. These guidelines provide data supported, peer reviewed recommendations for the care of patients with hemochromatosis. HH is one of the few genetic disorders in which phenotypic manifestations (organ damage) are delayed to adult life. However, sensitive and specific phenotypic and genotypic testing now allows diagnosis of HH while it is still a disorder of iron metabolism and before it results in end organ damage. Five recommendations are provided: undertake initial screening (by measurement of transferrin saturation after an overnight fast) of individuals with suspected iron overload and those over the age of 20 years who are first degree relatives of known cases of HH; perform genotyping to detect HFE mutations on all individuals who have abnormal iron studies; use liver biopsy in patients with suspected HH when documentation of hepatic iron concentration (HIC) and the stage of fibrosis is necessary or to rule out other causes of liver disease; undertake regular phlebotomies on all patients with HH who have evidence of iron overload, until iron stores are depleted; and treat secondary iron overload based on the underlying cause. The practical clinical guidelines provided in this article offer a cost effective, preemptive diagnostic approach whereby early identification of individuals at risk and initiation of life saving phlebotomy therapy in the presymptomatic stage of the disorder are facilitated. The article includes an algorithm for patient care management. 1 figure. 6 tables. 50 references.

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Genetic Testing in Hemochromatosis. Practical Gastroenterology. 25(9): 44, 47-48, 50, 52, 54, 56. September 2001.

Hereditary hemochromatosis (HH) is an inherited disorder in which the regulation of intestinal iron absorption is lost. Over several decades, iron accumulates and damages multiple organs such as the liver, pancreas, and heart. The identification of the gene responsible for HH (called HFE) has placed this disorder on the cutting edge of molecular medicine. Although this discovery has led to many advances in the understanding of the genetics, pathophysiology and clinical consequences of HH, many questions remain. This article reviews genetic testing in HH. The authors stresses that appropriate management of HH in the modern era requires gastroenterologists and hepatologists (liver specialists) to have an understanding not only of the medical aspects of HH but also of the issues involved in genetic testing. Before embarking on genetic testing, a physician must be willing and able to manage the implications of genetic testing. Despite a normal life expectancy when diagnosed before the development of cirrhosis or diabetes, insurance discrimination remains a concern. Patient confusion about the interpretation of results is common, as are ethical considerations such as the disclosure of positive results to family members. The author also comments on some unresolved issues in HH, in the areas of liver transplantation, hepatitis C, cardiovascular disease, and diabetes mellitus. An algorithm for the diagnosis of HH using genetic testing is provided. 2 figures. 3 tables. 29 references.

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Iron Overload. In: Okuda, K., ed.,et al. Hepatobiliary Diseases: Pathophysiology and Imaging. Malden, MA: Blackwell Science, Inc. 2001. p. 179-190.

The term 'hemochromatosis' is currently used to refer to a group of disorders in which a progressive increase in total body iron stores results in the deposition of iron in the parenchymal (body) cells of the liver, heart, pancreas, and other organs. This chapter on iron overload is from a textbook that familiarizes the reader with various imaging modalities, the information they provide, and the merits of each, in order to facilitate the combined use of different imaging techniques in the diagnosis and management of hepatobiliary (liver and bile tract) diseases. The increase in body iron deposition results from its intestinal absorption disproportionate to the body iron stores, either alone or in combination with iron loading. The excessive iron deposition frequently results in cellular damage. The authors use the term hemochromatosis to indicate the inherited genetic form of liver deposition and the term 'iron overload' to include all disorders associated with excessive iron overload. Topics covered include iron metabolism, the pathophysiology of iron overload, genetic hemochromatosis (its diagnosis and treatment), and secondary iron overload, including that due to erythropoietic siderosis, porphyria cutanea tarda, chronic alcoholic liver disease, and African hemochromatosis. 5 figures. 4 tables. 34 references.

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Liver and Iron. In: Arias, I.M., et al. Liver: Biology and Pathobiology, Fourth Edition. Philadelphia, PA: Lippincott Williams and Wilkins. 2001. p.345-359.

Iron is essential in a wide variety of biochemical reactions, and therefore extremely well conserved in humans. Loss of iron is almost precisely compensated by absorption of iron from the gut to maintain a near-zero balance of the metal. While the erythron (the red blood cell system) is the major site for iron utilization, the liver plays an essential, dual role in iron recycling and storage. This chapter on the liver and iron is from a textbook on the pathobiology and biology of the liver. Topics include the role of the liver in iron metabolism, the body's iron economy, cellular aspects of hepatic iron metabolism, proteins of iron metabolism, mechanisms of iron toxicity, and iron overload disorders. The section on specific disorders covers hereditary hemochromatosis, transferrin receptor-2-related hemochromatosis, juvenile hemochromatosis, non HFE-related hemochromatosis, African iron overload, Melanesian iron overload, aceruloplasminemia, congenital atransferrinemia or hypotransferrinemia, neonatal hemochromatosis, Finnish lethal neonatal metabolic syndrome, and liver iron in other diseases. 2 figures. 1 table. 120 references.

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Hemochromatosis: Diagnosis and Management. Gastroenterology 120(3): 718-725. February 2001.

Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism that is characterized by increased gastrointestinal iron absorption with subsequent tissue iron deposition. This article reviews the diagnosis and management of HH. Although the autosomal recessive inheritance pattern of HH has been recognized for more than 25 years, identification of the responsible gene (HFE) did not happen until 1996. The identification of HFE has established the foundation for a better understanding of the molecular and cellular biology of iron homeostasis (balance in the body) and its altered regulation in people with HH. Additionally, the ability to accurately diagnose iron overload disorders has been strengthened, family screening has been improved, and evaluation of patients with other forms of liver disease complicated by moderate to severe iron overload is now possible. The author notes that the role of HFE testing in generalized population screening for HH is still in the process of being determined. The author stresses the importance of distinguishing HH from other syndromes of iron overload. Several symptoms (e.g., fatigue, malaise, abdominal pain, arthralgias, and impotence) and clinical findings (e.g., hepatomegaly, abnormal liver enzymes, skin pigmentation, diabetes, and cardiomegaly) have been identified in patients with fully established HH, and all physicians should be aware of these symptoms and findings. Many patients with HH have abnormal serum iron values before the development of any significant symptoms or clinical findings, and liver biopsy is less important in these patients. 2 figures. 3 tables. 59 references.

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