|
Link to this page
Your search term(s) "hemochromatosis" returned 47 results.
Displaying all search results.
Hemochromatosis. Bethesda, MD: National Digestive Diseases Information Clearinghouse. 2007. 6 p.
Hemochromatosis, the most common form of iron overload disease, is an inherited disorder that causes the body to absorb and store too much iron. The extra iron builds up in the patient’s organs and damages them. This fact sheet reviews the causes (etiology), risk factors, symptoms, diagnosis, treatment, screening, and research related to hemochromatosis. The primary cause is genetic; however, there is a juvenile form and a neonatal form of the disease that are not caused by the genetic defect. Men are about five times more likely to be diagnosed with hemochromatosis than women. Joint pain is the most common complaint of people with hemochromatosis. Other common symptoms include fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems. However, many people have no symptoms when they are diagnosed. Blood tests can determine whether the amount of iron stored in the body is too high. Treatment is simple, inexpensive, and safe. The first step is to rid the body of excess iron through phlebotomy (removing blood); once iron levels return to normal, maintenance therapy, which involves giving a pint of blood every 1 to 4 months for life, begins. Screening for hemochromatosis is not a routine part of medical care or checkups. Current research in hemochromatosis is concentrated in four areas: genetics, pathogenesis, epidemiology, and screening and testing. The fact sheet concludes with the contact information for four resource organizations and a brief summary of the activities of the National Digestive Diseases Information Clearinghouse. 1 figure.
Full Record Printer Friendly Version
Pathogenesis. IN: Scobie, I.N. Atlas of Diabetes Mellitus. 3rd ed. New York, NY: Informa Healthcare USA. 2007. pp 9-32.
This chapter about pathogenesis is from an atlas of diabetes mellitus that offers text and pictures to familiarize clinicians with the most current information about diabetes, its diagnosis, and its treatment. The volume portrays the wide and varied expressions of diabetes and its complications as an aid to their more ready recognition in clinical practice. This chapter discusses type 1 diabetes; type 2 diabetes; other types of diabetes, including maturity-onset diabetes of the young (MODY); the obesity epidemic; and prevention of the different types of diabetes. The chapter offers full-color photographs of specific presentations of diabetes in conjunction with other diseases and genetic disorders, including Cushing’s syndrome, Prader-Willi syndrome, obesity, acromegaly, Addison’s disease, hemochromatosis, Klinefelter’s syndrome, Turner’s syndrome, myotonic dystrophy, and Rabson-Mendenhall syndrome. Additional illustrations present the biochemical consequences of insulin deficiency, mechanisms of glucose production and stimulation, histology of the pancreas and beta cells, and pathology of the pancreas. 44 figures. 20 references.
Full Record Printer Friendly Version
Current Approaches to the Management of Hemochromatosis. IN: Hematology 2006. Washington, DC: American Society of Hematology. 2006. pp. 36-41.
This article reviews current approaches to the management of hemochromatosis, a term that encompasses at least four types of genetic iron overload conditions, most of them recently distinguished from one another as a result of the identification of a series of genes related to iron metabolism. At least three of these entities—HFE hemochromatosis, juvenile hemochromatosis and transferrin receptor 2 hemochromatosis-involve systemic hepcidin deficiency as a key pathogenetic factor. Major advances in the management of hemochromatosis influence the diagnostic approach to the disease, with the development of an overall noninvasive strategy, mainly based on clinical; biological, iron parameters and genetic testing; and imaging, especially magnetic resonance imaging, data. Treatment options are dominated by traditional phlebotomy, also called venesection. However, some new treatment approaches, based on the improved pathophysiological understanding of these diseases and the progress in iron chelation therapy, are emerging. The authors conclude that preventive therapy, focused on screening of family members, remains a key part of the management of hemochromatosis. 2 figures. 43 references.
Full Record Printer Friendly Version
Hemochromatosis: Genetics and Pathophysiology. Annual Review of Medicine. 57: 331-347. February 2006.
This article reviews the different genetic disorders that can result in the accumulation of excess iron in the body, called hemochromatosis. Hemochromatosis can damage various organ systems, particularly the liver, the pancreas and other endocrine organs, and the heart. The causes of hereditary hemochromatosis include defects in genes encoding HFE, transferrin receptor 2, ferroportin, hepcidin, and hemojuvelin. The article begins with a discussion of the overall pathogenesis of primary hemochromatosis and the population genetics of hemochromatosis. Hepcidin, with its cognate receptor, ferroportin, has emerged as a central regulator of iron homeostasis; all of the known causes of hemochromatosis appear to prevent this system from functioning normally. The most common form of primary hemochromatosis is due to C282Y mutation of the HFE gene, a mutation which is most prevalent among people of Northern European descent. 1 figure. 1 table. 104 references.
Full Record Printer Friendly Version
New Advances in Iron Chelation Therapy. IN: Hematology 2006. Washington, DC: American Society of Hematology. 2006. pp. 42-47.
This article reviews new advances in iron chelation therapy, a technique used for the treatment of thalassemia major, sickle cell disease, and other hematologic disorders for which regular red cell transfusions are required either to correct severe anemia or to prevent major complications of the underlying disease. The author begins with a discussion of deferoxamine, a drug that requires prolonged parenteral infusion to achieve negative iron balance. The author then discusses orally active chelators that offer the promise of easier administration and better compliance. The availability of more than one iron chelator opens up the possibility of combination therapy to target iron in specific organs and to enhance overall iron excretion. For patients beginning iron chelation therapy and those with good control of iron stores and preservation of normal cardiac function, treatment with deferasirox is appropriate, but regular assessment of the iron burden is essential to achieve the correct dose. The author calls for research studies, employing new technologies to measure tissue iron, to determine whether the new chelators will be as safe and effective as deferoxamine. 3 tables. 27 references.
Full Record Printer Friendly Version
Hepcidin and its Role in Regulating Systemic Iron Metabolism. IN: Hematology 2006. Washington, DC: American Society of Hematology. 2006. pp. 29-35.
This article considers hepcidin and its role in regulating systemic iron metabolism. The author explains how maintenance of stable extracellular iron concentrations requires the coordinate regulation of iron transport into plasma from dietary sources in the duodenum, from recycled senescent red cells in macrophages and from storage in hepatocytes. Hepcidin is a 25-amino acid disulfide-rich peptide synthesized in the liver that acts as a systemic iron-regulatory hormone by regulating iron transport from iron-exporting tissues into plasma. Hepcidin inhibits the cellular loss of iron by binding to and inducing the degradation of ferroportin, the sole iron exporter in iron-transporting cells. In turn, hepcidin synthesis is increased by iron loading and decreased by anemia and hypoxia. Additionally, hepcidin synthesis is greatly increased during inflammation, trapping iron in macrophages, decreasing plasma iron concentrations and causing iron-restricted erythropoiesis characteristic of anemia of inflammation (anemia of chronic disease). Recent studies indicate that hepcidin deficiency underlies most known forms of hereditary hemochromatosis. This implies that hemochromatosis genes encode molecules that regulate hepcidin synthesis. The author concludes with a discussion of the possible use of a hepcidin assay for the diagnosis of iron disorders and the monitoring of their treatments. In addition, the development of hepcidin agonists and antagonists may provide useful therapeutics for the treatment of iron disorders. 1 table. 45 references.
Full Record Printer Friendly Version
Hereditary Hemochromatosis and Porphyria. Canadian Porphyria Foundation National Newsletter. p. 3, 6. Summer 2006.
This article, from a newsletter for people with porphyria, considers the connection between hereditary hemochromatosis and porphyria. Hereditary hemochromatosis is a disorder that results in the deposition of iron in the cells of the body, causing tissue damage and dysfunction in the organ where it is deposited. The author reviews the pathology, symptoms, genetics, diagnosis, and treatment of hereditary hemochromatosis. The author then reminds readers that porphyria cutanea tarda (PCT) is caused by reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver, which then leads to the accumulation of uroporphyrins and a variety of skin manifestations. Acquired PCT, also called sporadic PCT, is associated with alcohol abuse, estrogens, liver disease, and iron overload. Iron often triggers the clinical manifestations of PCT by inactivating URO-D. Sixty percent or more of people with PCT have increased iron stores; many of these have hereditary hemochromatosis. A brief glossary of terms concludes the article.
Full Record Printer Friendly Version
Hereditary Iron Overload: Update on Pathophysiology, Diagnosis, and Treatment. American Journal of Hematology. 81(3): 202-209. March 2006.
This article describes hereditary iron overload, called hemochromatosis, a very common genetic defect in the Caucasian population. Hemochromatosis is characterized by progressive tissue iron overload which leads to irreversible organ damage if it is not treated. Four types of inherited iron overload have been recognized: type 1, the most common form with an autosomal recessive inheritance, is associated with mutations in the HFE gene on chromosome 6; type 2 (juvenile hemochromatosis) is an autosomal recessive disorder with causative mutations; type 3 also has an autosomal recessive inheritance; and type 4 is an autosomal dominant condition with heterozygous mutations in the ferroportin 1 gene on chromosome 2. The author focuses on the pathophysiology, diagnosis, and treatment of each of these types of hereditary hemochromatosis. The aim of population-based screening for hemochromatosis is to identify those individuals requiring treatment before the development of complications of iron overload. However, there is disagreement on which test—biochemical or genetic—should be used for general screening and which population should be screened. For treatment, therapeutic phlebotomy is the safest, most effective, and most economical treatment for hereditary hemochromatosis. Patients who start phlebotomy before the onset of irreversible organ damage have a normal life expectancy. 1 table. 84 references.
Full Record Printer Friendly Version
Hypochromic Anaemias and Iron Overload. IN: Hoffbrand, A.V.; Moss, P.A.H.; Pettit, J.E. Essential Haematology. 5th ed. Williston, VT: Blackwell Publishing Inc. 2006. pp. 28-43.
This chapter on hypochromic anemias and iron overload is from a hematology textbook that offers a comprehensive look at the biochemical, physiological, and immunological processes involved in normal blood cell formation and function and the disturbances that may occur in different diseases. The authors discuss the nutritional and metabolic aspects of iron, iron deficiency, anemia associated with chronic disorders, sideroblastic anemia, and iron overload conditions. Specific topics include body iron distribution and transport, the regulation of ferritin and transferrin receptor 1 synthesis, hepcidin, dietary iron, iron absorption and iron requirements, the causes and clinical features of iron deficiency, diagnostic tests used to determine the cause of iron deficiency, oral and parenteral iron used to treat iron deficiency, and hemochromatosis. The chapter includes full-color illustrations and photographs. 15 figures. 10 tables. 18 references.
Full Record Printer Friendly Version
Metabolic Liver Disease. IN: Lichtenstein, G.; Reddy, K.R.; Faust, T., eds. Clinician’s Guide to Liver Disease. Thorofare, NJ: Slack Incorporated. 2006. pp 139-160.
This chapter about metabolic liver disease is from a user-friendly reference book that provides gastroenterologists with an overview of the management of acute and chronic liver disease. The author notes that the metabolic liver diseases comprise a varied group of disorders, with differing modes of onset and clinical presentations. Most of these disorders are seen primarily in children. However, improved management has led to a greater longevity in those affected, with the patients making a transition to adult care with a gastroenterologist. The author’s discussion focuses on some of the more important disorders encountered in adult clinical practice, namely derangements of metal metabolism and the relatively uncommon disorder of alpha-1 antitrypsin deficiency. Disorders of metal metabolism covered include iron overload syndromes, hereditary hemochromatosis, Wilson disease, and Menke’s disease. The chapter includes patient care algorithms for Wilson disease and hereditary hemochromatosis. 2 figures. 1 table. 37 references.
Full Record Printer Friendly Version
Evaluation of the Patient for Liver Transplantation. Hepatology. 41(6): 1-26. June 2005.
Liver transplantation is the most effective treatment for many patients with acute or chronic liver failure resulting from a variety of causes. This article presents the practice guideline from the American Association for the Study of Liver Diseases (AASLD) on the evaluation of patients for liver transplantation. These recommendations are based on a formal review and analysis of the published literature on the topic; several consensus conferences among experts; the American College of Physicians' Manual for Assessing Health Practices and Designing Practice Guidelines; guideline policies produced by professional organizations, including the AASLD and the American Gastroenterological Association; and the authors’ experience in the specified topic. Topics include the indications of liver transplantation, when evaluation for transplantation should be considered, determining the need for liver transplantation, and recipient evaluation at the transplant center. The article offers recommendations for patients with the hepatopulmonary syndrome, portopulmonary hypertension, obesity, cigarette smoking, kidney failure, extrahepatic malignancies, osteoporosis, HIV infection, surgical contraindications, and psychosocial problems. The authors discuss specific indications for liver transplantation, including chronic noncholestatic liver disorders, chronic hepatitis C, chronic hepatitis B, autoimmune hepatitis, alcoholic cirrhosis, cholestatic liver disorders, primary biliary cirrhosis, primary sclerosing cholangitis, childhood cholestatic diseases, metabolic diseases, alpha-1-antitrypsin disease, Wilson disease, nonalcoholic steatohepatitis and cryptogenic cirrhosis, hereditary hemochromatosis, neonatal hemochromatosis, tyrosinemia and glycogen storage disease, metabolic diseases with severe extrahepatic manifestations, amyloidosis and hyperoxaluria, urea cycle and branched-chain amino acid disorders, hepatic malignancies, hepatocellular carcinoma, hepatoblastoma, fibrolamellar hepatocellular carcinoma and hemangioendothelioma, cholangiocarcinoma, and fulminant hepatic failure. The article includes 76 specific recommendations for the evaluation of the patient for liver transplantation. 3 tables. 328 references.
Full Record Printer Friendly Version
Genetic Liver Disease. IN: U.S. Department of Health and Human Services. Action Plan for Liver Disease Research. Bethesda, MD: National Digestive Diseases Information Clearinghouse. 2004. pp. 109-118.
Genetic liver diseases include hereditary hemochromatosis, Wilson disease, the porphyries, cystic fibrosis, polycystic liver disease, alpha-1 antitrypsin deficiency, hereditary tyrosinemia, Alagille syndrome, and several neonatal cholestatic syndromes and inherited diseases of metabolism. This chapter on genetic liver disease is from the Action Plan for Liver Disease Research that was developed to advance research on liver and biliary diseases. The Action Plan was undertaken to identify areas of scientific opportunity to help direct research resources at the National Institutes of Health (NIH) toward practical goals in the prevention, diagnosis, and management of liver and biliary diseases. In this chapter, the authors first review the symptoms, complications, etiology, and mechanisms of injury of genetic liver diseases that tend to present in adolescence or adulthood: hemochromatosis, Wilson disease, the porphyries, cystic fibrosis, polycystic liver disease, and congenital hepatic fibrosis. The chapter then outlines recent research advances in the areas of pathogenesis, diagnosis, monitoring, and therapy of these genetic liver diseases. The authors provide specific research goals for these same diseases. A final section considers the steps that would assist in achieving these research goals, noting that a major opportunity to help advance research in each of these genetic liver diseases is the pursuit of molecular diagnosis and studies of genotype-phenotype comparisons. One chart summarizes the short (0 to 3 years), intermediate (4 to 6 years), and long-term (7 to 10 years) goals of research on these topics. 1 figure. 1 table.
Full Record Printer Friendly Version
Nuts and Bolts of Dietary Iron. Diabetes Self-Management. 21(5): 6-9, 11-13. September-October 2004.
Iron is an essential mineral that is needed for the formation of red blood cells, hemoglobin (the protein in red blood cells that carries oxygen), and myoglobin (the protein in red blood cells that carries oxygen in muscle). In addition to carrying oxygen, iron is involved in energy metabolism, collagen formation, immune system function, and the production of neurotransmitters such as serotonin and dopamine. This article familiarizes readers with the basics of dietary iron. Topics include food sources of iron, daily iron requirements, the problem of iron-deficiency anemia, the use of iron supplements, iron overload (including that caused by the genetic condition of hemochromatosis), iron and bone health, and iron and Type 2 diabetes. One section cautions readers about iron supplements, which may interact or interfere with the absorption and action of some medicines, or which may worsen other medical conditions such as kidney disease, heart disease, asthma, intestinal disorders, and stomach ulcers. Readers are encouraged to work closely with their health care providers, including a dietitian, to ensure that they are getting the appropriate amount of iron in their diet. One chart lists food sources of iron. 2 tables.
Full Record Printer Friendly Version
Hemochromatosis. In: Textbook of Gastroenterology. 4th ed. [2-volume set]. Hagerstown, MD: Lippincott Williams and Wilkins. 2003. p. 2388-2396.
Hemochromatosis is a systemic genetic disease with multisystem involvement; the liver is central both in the diagnosis and prognosis in hemochromatosis. The disease is manifested by enhanced intestinal iron absorption which is then deposited in the liver. This chapter on hemochromatosis is from a comprehensive gastroenterology textbook that provides an encyclopedic discussion of virtually all the disease states encountered in a gastroenterology practice. In this chapter, the author discusses iron absorption and pathogenesis of hemochromatosis, clinical features, diagnosis, diagnosis of non-HFE hemochromatosis and secondary iron overload, treatment considerations, and population screening. The author concludes that hemochromatosis is a common and often underdiagnosed disease. Early diagnosis and treatment results in an excellent long-term prognosis. The development of a diagnostic genetic test has improved the feasibility of the goal of prevention of morbidity and mortality from hemochromatosis. The chapter is illustrated with black-and-white graphs and drawings. 4 figures. 2 tables. 53 references.
Full Record Printer Friendly Version
Cirrhosis of the Liver [Cirrosis del Higado]. Bethesda, MD: National Digestive Diseases Information Clearinghouse (NDDIC), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health. 2002. 3 p.
This fact sheet discusses cirrhosis of the liver, the eighth leading cause of death by disease. In the United States, chronic alcoholism and hepatitis C are the most common causes of cirrhosis. Other causes include chronic hepatitis B and D, autoimmune hepatitis, and a number of inherited diseases, including Alpha-1 antitrypsin deficiency, hemochromatosis, and Wilson's disease. The fact sheet covers topics including prevalence; causes; signs and symptoms; complications, diagnosis (including blood tests, liver scans, liver biopsy and laparoscopy); and treatment (including diet and drug therapies). A brief list of additional resources is included.
Full Record Printer Friendly Version
Haemochromatosis. Alimentary Pharmacology and Therapeutics. 16(12): 1963-1975. December 2002.
This article reviews hereditary hemochromatosis, the prototype disease for primary iron overload. The disorder is very common, especially amongst subjects of Northern European extraction. The disorder is characterized by an autosomal recessive mode of inheritance. Hemochromatosis is now recognized to be a complex genetic disease with probable significant environmental and genetic modifying factors. The early diagnosis of individuals at risk for the development of hemochromatosis is important, because survival and morbidity (related illness) are improved if phlebotomy (blood-letting) therapy is instituted before the development of cirrhosis (liver scarring). The cost-effectiveness and utility of large-scale screening for hemochromatosis have been questioned, given that many individuals with the genetic mutation do not have iron overload or end-organ damage. Liver biopsy remains important in management to determine the presence or absence of cirrhosis. Patients with end stage liver disease may develop liver failure or primary liver cancer, and liver transplantation may be required. Liver transplantation for hemochromatosis is associated with a poorer outcome compared with other indications because of infections and cardiac complications. 2 figures. 1 table. 102 references.
Full Record Printer Friendly Version
Hemochromatosis. Bethesda, MD: National Digestive Diseases Information Clearinghouse (NDDIC), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health. 2002. 5 p.
Hemochromatosis, the most common form of iron overload disease, is an inherited disorder that causes the body to absorb and store too much iron. The extra iron builds up in the patient's organs and damages them. This fact sheet reviews the causes (etiology), risk factors, symptoms, diagnosis, treatment, screening, and research related to hemochromatosis. The primary cause is genetic; however, there is a juvenile form and a neonatal form of the disease that are not caused by the genetic defect. Men are about five times more likely to be diagnosed with hemochromatosis than women. Joint pain is the most common complaint of people with hemochromatosis. Other common symptoms include fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems. However, many people have no symptoms when they are diagnosed. Blood tests can determine whether the amount of iron stored in the body is too high. Treatment is simple, inexpensive, and safe. The first step is to rid the body of excess iron through phlebotomy (removing blood); once iron levels return to normal, maintenance therapy, which involves giving a pint of blood every 1 to 4 months for life, begins. Screening for hemochromatosis is not a routine part of medical care of checkups. Current research in hemochromatosis is concentrated in four areas: genetics, pathogenesis, epidemiology, and screening and testing. The fact sheet concludes with the contact information for five resource organizations, and a brief summary of the services of the National Digestive Diseases Information Clearinghouse. 1 figure.
Full Record Printer Friendly Version
Hereditary Hemochromatosis and Iron Overload Diseases. Journal of Gastroenterology and Hepatology. 17 (Supplement): S191-S195. February 2002.
This review article considers hereditary hemochromatosis (HHC) and other iron overload diseases. The author first describes normal iron absorption and physiology, including the recent application of genetic and molecular approaches to the study of inherited disorders of iron metabolism. The author then reviews iron overload disease and resultant tissue injury; and the clinical features, diagnosis, genetics, pathobiology, associated diseases, screening, and therapy of HHC. Management objectives for HH are summarized, and include: early diagnosis to prevent organ damage and dysfunction due to tissue iron toxicity; screening and early detection of asymptomatic HHC cases to reduce mortality; recognition and diagnosis of symptomatic cases of HHC, to minimize progression and complications of the disease; adequate treatment of HHC to promote rapid, safe, and effective removal of iron; and vigilant follow up and maintenance treatment of all cases of HHC. 2 tables. 15 references.
Full Record Printer Friendly Version
Hereditary Hemochromatosis. In: Feldman, M.; Friedman, L.S.; Sleisenger, M.H. Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management. 7th ed. [2-volume set]. St. Louis, MO: Saunders. 2002. p. 1261-1268.
Hereditary hemochromatosis (HH) is the term used for the inherited disease of iron overload that is characterized by an inappropriately elevated rate of intestinal iron absorption. In 1996, the gene for HH, called HFE, was identified, allowing genetic testing for the two major mutations that are responsible for HH. Subsequently, numerous clinical and pathophysiologic studies have led to improved diagnosis, better family screening, and new insights into normal and abnormal iron homeostasis. This chapter on HH is from a comprehensive and authoritative textbook that covers disorders of the gastrointestinal tract, biliary tree, pancreas, and liver, as well as the related topics of nutrition and peritoneal disorders. Topics include the causes of iron overload, pathophysiology, clinical manifestations, diagnosis, treatment, prognosis, and family screening. The authors note that HH is a common autosomal recessive disorder of iron metabolism; if it is diagnosed early and treated appropriately, affected persons can have a normal life span. The chapter includes a mini-outline with page citations, full-color illustrations, and extensive references. 3 figures. 3 tables. 53 references.
Full Record Printer Friendly Version
Hereditary Hemochromatosis. American Family Physician. 65(5): 865-866. March 1, 2002.
This fact sheet offers patients basic information about hereditary hemochromatosis, a genetic condition that makes the body store up too much iron. This iron overload can damage tissues and organs. The fact sheet reviews the other (non genetic) causes of hemochromatosis, the signs and symptoms of the disease, diagnostic tests that may be used to confirm hemochromatosis, treatment options, prognosis, and recommendations for screening. With early diagnosis and treatment, nearly all the problems associated with hereditary hemochromatosis can be prevented. Strategies for lifestyle changes are also provided for people who have been diagnosed with hereditary hemochromatosis. The fact sheet includes the contact addresses and web sites for three resource organizations that can offer readers additional information.
Full Record Printer Friendly Version
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.
Full Record Printer Friendly Version
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.
Full Record Printer Friendly Version
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.
Full Record Printer Friendly Version
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.
Full Record Printer Friendly Version
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.
Full Record Printer Friendly Version
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.
Full Record Printer Friendly Version
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.
Full Record Printer Friendly Version
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.
Full Record Printer Friendly Version
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.
Full Record Printer Friendly Version
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.
Full Record Printer Friendly Version
Non-Viral Liver Disease. In: Farthing, M.J.G.; Ballinger, A.B., eds. Drug Therapy for Gastrointestinal and Liver Diseases. Florence, KY: Martin Dunitz. 2001. p. 259-288.
The last decade has seen important advances in the knowledge of the diagnosis, natural history, and treatment of non-viral-induced liver disease, including primary sclerosing cholangitis, primary biliary cirrhosis (PBC), autoimmune hepatitis, hemochromatosis, Wilson's disease, alpha-1 antitrypsin deficiency, alcoholic hepatitis, liver storage diseases, Budd-Chiari syndrome, and drug-induced liver disease. This chapter on non-viral liver disease is from a textbook that reviews the drug therapy for gastrointestinal and liver diseases. The chapter provides a brief summary of the pathophysiology of each disease, the rationale for drug intervention, and appropriate treatment regimens as indicated by current knowledge. The chapter concludes with a drug list that summarizes mode of action, and other aspects of clinical pharmacology where appropriate, drug doses, common adverse affects, and drug interactions. 3 tables. 113 references.
Full Record Printer Friendly Version
Other Causes of Parenchymal Liver Disease. In: Beckingham, I.J., ed. ABC of Liver, Pancreas and Gallbladder. London, UK: BMJ Publishing Group. 2001. p.15-17.
This chapter on other causes of parenchymal (in the body of the organ) liver disease is from an atlas of the liver, pancreas and gallbladder. Topics covered include autoimmune hepatitis; metabolic causes of liver disease, including hemochromatosis (iron overload) and Wilson's disease (copper deposition); drug related hepatitis, including paracetamol and idiosyncratic drug reactions; and cholestatic nonobstructive jaundice, including primary biliary cirrhosis and primary sclerosing cholangitis. The author notes that most drugs have the potential to cause liver injury and 2 to 7 percent of admissions with nonobstructive jaundice are for drug related hepatitis. Herbal remedies and illegal drugs can also cause jaundice and liver damage. The chapter concludes with summary points of the concepts discussed. 6 figures. 3 tables.
Full Record Printer Friendly Version
Hemochromatosis. Toronto, Ontario: Canadian Liver Foundation. 2000. 2 p.
This brochure describes hemochromatosis, a hereditary disease that causes excessive amounts of iron to accumulate in the body. The liver is the first organ to store iron and when its storage capacity is exhausted, the iron continues to accumulate in the heart, the pituitary gland, and elsewhere in the body. If untreated, damage to the liver, heart, and pancreas may eventually lead to death. Injury to the liver is reversible provided treatment is started before cirrhosis (liver scarring) has developed. Written in a question and answer format, the brochure discusses the causes of hemochromatosis, the symptoms of the condition, how hemochromatosis affects organs other than the liver, diagnostic strategies, screening guidelines, treatment options, and dietary considerations. The brochure concludes with the contact information for the Canadian Liver Foundation (www.liver.ca).
Full Record Printer Friendly Version
Hereditary Hemochromatosis. Physician Assistant. p. 31-40, 43-44. February 1999.
This continuing education article familiarizes physician assistants with hereditary hemochromatosis (HHC), one of the most common genetic disorders in the United States. HHC is an autosomal recessive condition associated with primary overabsorption of iron from the gastrointestinal tract. It may cause lifelong excessive iron absorption and accumulation and serious health effects including arthritis, cirrhosis, diabetes, impotence, myocardial infarction, and death. HHC is often considered primarily a disease of European men. However, iron overloading occurs in all ethnic groups. HHC eventually causes serious illness and death if untreated. Complications can be avoided by routine screening before clinical symptoms develop. HHC is effectively treated by the early use of therapeutic phlebotomy. The cornerstone of screening is measurement of serum transferrin saturation and the serum ferritin level. A DNA based test for the hemochromatosis gene is commercially available, but its place in the diagnosis of HHC is still being evaluated. Appended to the article is a study guide and a posttest for earning continuing medical education (CME) credits. 4 figures. 1 table. 22 references.
Full Record Printer Friendly Version
Update in Hepatology. Annals of Internal Medicine. 134(3): 216-223. February 6, 2001.
This article summarizes advances in hepatology (study of the liver and liver diseases) over the past 2 years. The author recounts some important aspects of the history of viral hepatitis and hemochromatosis and describes notable new reports that may help guide an internist's approach to patients with these liver diseases. The author offers nine abstracts of recent research studies on hepatitis A, hepatitis B, hepatitis C, and hemochromatosis. Hepatitis A is viewed as a rather benign condition. Certain groups are at increased risk, including travelers to the tropics or developing countries, children and caregivers in child care centers, and people who eat shellfish that is improperly handled or prepared. The author notes that now the viral genetic sequence of HAV is known, the Centers for Disease Control and Prevention can determine whether a single source caused an outbreak. Hepatitis B virus is a bloodborne, DNA virus that is transmitted sexually, parenterally, and perinatally. Hepatitis B has a tremendous potential for shortening life, but two established treatments are available: lamivudine and interferon. Hepatitis C is now the most common liver disease and is responsible for almost 40 percent of the liver transplantations done in the United States. The author cautions that although there has been a recent decline in the number of new cases per year, the slow but relentless progression of liver disease and the long natural history of hepatitis C will result in more patients coming into the health care system (with unexpected cirrhosis from hepatitis C and with complications of hepatitis C such as liver cancer). Advances in hereditary hemochromatosis have created a new screening dilemma for general internists. Genetic testing is expensive and not appropriate for general screening, but can be used as an adjunct to diagnosis, particularly in studying family members once a diagnosis has been made. Liver biopsy should be performed when the diagnosis is in doubt. The slow course of the disease underscores the importance of early detection when the disease is occult, and intervention with phlebotomy (therapeutic blood removal) can prevent cirrhosis. 2 tables. 9 references.
Full Record Printer Friendly Version
Vibrio Vulnificus Fact Sheet for Health Care Providers. New York, NY: American Liver Foundation. 2006. 2 p.
Vibrio vulnificus is a gram-negative bacterium that is considered the most lethal of the vibrios inhabiting brackish and salt water. This bacterium occurs naturally in warm, coastal areas and is found in higher concentrations from April through October, when coastal waters are warm. This fact sheet helps health care providers understand the risks of V. vulnificus infection. Topics include the population most at risk of V. vulnificus infection; the clinical syndromes associated with V. vulnificus infections, including primary septicemia, gastroenteritis, and wound infection; diagnostic approaches; treatment, notably with antibiotics; long-term sequelae; case reporting, which is mandated at the state level; and strategies to reduce the risk of infection. Most healthy individuals are not at risk for V. vulnificus infection. Persons at high risk include those with liver disorders, including hepatitis, cirrhosis, and liver cancer; hemochromatosis; diabetes mellitus; and immunocompromising conditions such as HIV, AIDS, and cancer. The fact sheet includes the contact information for the Interstate Shellfish Sanitation Conference (www.issc.org; 803-788-7559). 3 references.
Full Record Printer Friendly Version
What is Hemochromatosis?. Cedar Grove, NJ: American Liver Foundation. 2001. [4 p.].
This brochure reviews hemochromatosis, an inherited condition that causes the body to absorb and store too much iron. The brochure answers common questions about hemochromatosis, covering the risk factors for the disease, the symptoms, diagnostic tests for iron overload, treatment options, the prognosis for people with hemochromatosis, the presence of anemia with iron overload, the role of alcohol in accelerating liver damage, the relationship between diet and iron overload, and liver transplantation in patients with hemochromatosis. The brochure concludes with a brief description of the American Liver Foundation (ALF), a nonprofit, national voluntary health organization dedicated to the prevention, treatment, and cure of hepatitis and other liver diseases through research, education, and advocacy.
Full Record Printer Friendly Version
Your Liver, Your Health. Toronto, Ontario: Canadian Liver Foundation. 2001. 4 p.
Virtually all the blood returning from the intestinal tract to the heart passes through the liver. This means that all foods and compounds that are swallowed that are absorbed into the bloodstream pass through the liver. This brochure describes the role of the liver and the common diseases that can affect the liver. Topics include the physiology of the liver; who is affected by liver disease; common liver diseases including gallstones, viral hepatitis, hepatitis A, hepatitis B, hepatitis C, cirrhosis (scarring of the liver), liver cancer, liver disease in children, autoimmune hepatitis, alcohol-related liver disease, hemochromatosis, and primary biliary cirrhosis (PBC); the symptoms and signs of liver disease; strategies for taking care of one's liver; and the use of liver transplantation. The brochure concludes with a brief description of the goals and activities of the Canadian Liver Foundation (www.liver.ca).
Full Record Printer Friendly Version
Genetic Liver Disease in Adults: Early Recognition of the Three Most Common Causes. Postgraduate Medicine. 107(2): 147-152, 155, 158-159. February 2000.
This article is the final entry in a four article symposium that provides a practical approach to the diagnosis and management of common hepatic disorders encountered by primary care physicians. In this article, the authors review the early recognition and diagnosis of the three most common causes of genetic liver disease in adults: Wilson's disease, hereditary hemochromatosis (HHC), and alpha1 antitrypsin deficiency. Although advances in molecular biology have led to the identification and characterization of the genetic defects in these disorders, gene testing has its strengths and limitations. The longstanding techniques of serum (blood) testing and histologic assessment can be combined with genetic evaluation to clarify the diagnosis. Genetic testing is probably most helpful in HHC because of the high frequency of the homozygous C282Y mutation among patients of northern European descent and the relatively high penetrance of the mutation with regard to clinical expression. Genetic testing is much less helpful in the other genetic liver diseases because of the high number of possible mutations and variable clinical expression. However, noninvasive phenotype based screening tests and specific treatments are available for most genetic liver diseases. A patient care algorithm is included. 1 figures. 4 tables. 19 references.
Full Record Printer Friendly Version
Detecting Hereditary Hemochromatosis. Nurse Practitioner. 25(7): 64, 69, 73-74, 76. July 2000.
This article reviews the diagnosis of hereditary hemochromatosis (HH), the most commonly inherited autosomal recessive disorder. Hemochromatosis is a current or potential progression of abnormally high accumulations of iron in the liver. If left untreated, the condition can lead to chronic or irreversible hepatic (liver) fibrosis, cirrhosis (scarring), hepatocellular carcinoma (liver cancer), arthritis, and organ failure. Common signs and symptoms seen in the primary care setting include fatigue, weakness, abdominal pain, palpitations, skin pigmentation (coloring) changes, and arthropathy, but any symptom associated with organ damage may be reported. Because prompt intervention can cease or reverse the debilitating effects of iron overload, prompt disease diagnosis and treatments are imperative. The author notes that often an HH diagnosis is delayed in asymptomatic patients or patients with vague complaints of fatigue and arthropathy. The goal is to identify patients prior to symptom onset and organ damage; recent gene typing studies have made this a possibility. Early manifestations of HH include vague symptoms of weakness, fatigue, weight loss, skin pigmentation changes, abdominal pain, loss of libido, and diabetes mellitus symptoms. Advanced physical signs include liver and spleen enlargement, skin pigmentation changes, spider angiomas, arthropathy, ascites, cardiac arrhythmias, heart failure, testicular atrophy, and jaundice. Because HH is an inherited disorder, the family history should be specific and complete. Routine assays are the most commonly used testing. A definitive diagnosis is made via liver biopsy. Patients with HH should be instructed to increase their dietary protein, as hemoglobin is 96 percent protein; folic acid of 1 mg daily will assist in hemoglobin formation. Vitamin or mineral supplements that contain iron should be avoided. And because alcohol is a hepatotoxin and wine contains iron, alcohol should be avoided. 1 figure. 31 references.
Full Record Printer Friendly Version
Effect of HFE Genotypes on Measurements of Iron Overload in Patients Attending a Health Appraisal Clinic. Annals of Internal Medicine. 133(5): 329-337. September 5, 2000.
The gene that causes most cases of hereditary hemochromatosis (HH, an inherited propensity to absorb excess iron) is designated HFE. Three mutations exist at this locus at a relatively high gene frequency. This article reports on a study undertaken to determine the gene frequency of the three HFE mutations and to relate genotypes to various clinical and laboratory variables. The observational study included 10,198 adults who registered for health appraisal and consented to DNA examination for hemochromatosis. Consenting patients were slightly older and had attained a slightly higher educational level than nonconsenting patients. In white participants, the gene frequencies were 0.063 for the C282Y mutation, 0.152 for the H63D mutation, and 0.016 for the S65C mutation. Gene frequencies were lower in other ethnic groups. In participants with HFE mutations, blood tests showed that the average serum transferrin saturation and ferritin levels were slightly increased, as were mean hemoglobin levels and mean corpuscular volume. The prevalence of iron deficiency anemia was lower in women who carried HFE mutations. The authors conclude that screening for transferrin saturation and ferritin levels does not detect all homozygotes for the major hemochromatosis mutation. The authors briefly discuss the ongoing question of determining which screening practices are most practical and effective for identifying HH. 1 figure. 6 tables. 33 references.
Full Record Printer Friendly Version
HFE-Associated Hereditary Hemochromatosis. Canadian Journal of Gastroenterology. 14(2): 121-125. February 2000.
This article reviews the current thinking on hereditary hemochromatosis, a common inherited disorder of iron metabolism. Screening studies indicate that there is a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about 1 in 7 to 1 in 10. The gene for hereditary hemochromatosis (HFE) was identified in 1996 and two candidate mutations; the C282Y mutation has been shown to be responsible for the majority of the hereditary hemochromatosis cases worldwide. The gene discovery has led to rapid advances in the field of iron metabolism. Although the basic defect is still not fully understood, much is known about the sequence of events leading to iron overload. The authors contend that hereditary hemochromatosis is a major candidate for population screening and meets the screening criteria of the World Health Organization (WHO). It is one of the most prevalent genetic diseases in white populations, and, importantly, early diagnosis and simple effective treatment allow normal life expectancy. The authors conclude that the discovery of the HFE gene and the frequency of the single C282Y mutation as a cause of most cases of hereditary hemochromatosis allow the possibility of widespread genetic testing. However, the logistics and the psychological and social consequence of this, coupled with incomplete expression of the genotype, necessitate further studies before population screening can be justified. 1 figure. 57 references.
Full Record Printer Friendly Version
Liver Disease. In: King, J.E., ed. Mayo Clinic on Digestive Health. Rochester, MN: Mayo Clinic. 2000. p. 151-166.
This chapter on liver disease is from a comprehensive guidebook from the Mayo Clinic that focuses on a variety of digestive symptoms, including heartburn, abdominal pain, constipation, and diarrhea, and the common conditions that are often responsible for these symptoms. Written in nontechnical language, the book includes practical information on how the digestive system works, factors that can interfere with its normal functioning, and how to prevent digestive problems. The first section of the chapter focuses on hepatitis, including the key signs and symptoms of hepatitis, notably fatigue, loss of appetite, nausea, unexplained weight loss, and yellowing of skin and eyes (jaundice). The authors describe the different types of hepatitis (alcohol or drug induced, hepatitis A, hepatitis B, hepatitis C, hepatitis D and E, autoimmune hepatitis, and nonalcoholic steatohepatitis); review the blood tests (liver function tests) that may be used to help diagnose or monitor hepatitis; and discuss treatment options, including corticosteroids, interferon, lamivudine, and liver transplantation. A final section reviews healthy lifestyle approaches for living with hepatitis, and strategies for preventing the disease. The next section of the chapter addresses hemochromatosis (a genetic abnormality that causes the intestines to absorb too much iron), noting that the symptoms can include fatigue, joint pain, impotence (erectile dysfunction) or loss of sex drive, increased skin pigmentation (bronzing), and increased thirst and urination. This section also reviews diagnosis, determining whether screening is necessary for family members of patients with hemochromatosis, and the use of diet therapy (reduced iron intake) to help treat the disease. One sidebar mentions Wilson's disease and alpha 1 antitrypsin deficiency as other inherited liver disease. The last section of the chapter addresses cirrhosis, a condition in which scar tissue forms in the liver and keeps it from functioning normally. 1 figure.
Full Record Printer Friendly Version
Liver Disorders Sourcebook. Detroit, MI: Omnigraphics. 2000. 591 p.
This Sourcebook provides basic health care information about liver functions, guidelines for liver health, and tests that assess liver distress. The book also presents the symptoms, treatments, and preventive measures available for liver cancer; hepatitis A, B, C, D and E; genetically based liver diseases; and other liver diseases. The liver transplantation process is explained. Specific topics include strategies for protecting the liver, risk factors, common laboratory tests in liver disease, liver biopsy, cancer tumor markers, cirrhosis (scarring of the liver), infectious agents and parasites, pregnancy and the liver, jaundice in the healthy newborn, the liver's response to drugs, alcohol and the liver, acetaminophen, herbs and alternative medicine, galactosemia, Gaucher disease, hereditary hemochromatosis, Niemann-Pick disease, Wilson's disease, biliary atresia, cystic disease of the liver, fatty liver, gallstones, primary biliary cirrhosis, primary sclerosing cholangitis, organ donation, and the bioartificial liver. A glossary, a directory of organizations and support groups with up to date contact information (including websites and email addresses), a listing of transplant centers, and a subject index conclude the volume.
Full Record Printer Friendly Version
Liver Tests: Simple Blood Tests Can Reveal a Lot. Mayo Clinic Health Letter. 18(5): 1-3. May 2000.
This article, from a health newsletter, reviews the liver function tests that are used to monitor liver health and disease. The author begins by reviewing the healthy functions of the liver, including regulating the composition of the blood, manufacturing vital nutrients (such as cholesterol, vitamin A, certain proteins, bile), and neutralizing toxic substances. Sometimes there is an obvious sign of a problem, such as jaundice, which is a buildup of bilirubin in the blood, resulting in a yellow appearance of the skin and eyes. The various liver tests basically screen for three types of abnormalities: liver cell damage, reduced protein levels in the blood, and failure to eliminate certain substances from the blood. Information from the blood tests, combined with a thorough physical exam and sometimes diagnostic imaging, may be enough to reach a specific diagnosis; sometimes a liver biopsy is added to the list of diagnostic tests. Some of the more common liver disorders that are detected with these tests are viral hepatitis, alcohol or drug related liver disease, liver cancer, nonalcoholic steatohepatitis (a form of fatty liver), and hemochromatosis (high amounts of iron stored in the body). One sidebar reviews the drugs that can lead to liver toxicity. The author concludes that mild liver test abnormalities are normal; however, significantly abnormal test results should never be ignored. 1 figure.
Full Record Printer Friendly Version
Secondary Forms and Genetic Syndromes of Diabetes Mellitus. In: Leahy, J.L.; Clark, N.G.; Cefalu, W.T. Medical Management of Diabetes Mellitus. Monticello, NY: Marcel Dekker, Inc. 2000. p. 217-233.
Hyperglycemia (high levels of blood glucose) or impaired glucose tolerance is a feature of a large number of illnesses and genetic syndromes that are collectively termed secondary forms of diabetes. Type 1 and type 2 diabetes make up the vast majority of cases seen by primary care physicians. Although many of the secondary forms are rare, each has characteristic clinical features that are of diagnostic value, and practicing physicians must have some familiarity and a high index of suspicion. This chapter on secondary forms and genetic syndromes of diabetes mellitus is from a textbook for practicing providers and for physicians in training that offers a comprehensive, up-to-date overview of diabetes mellitus. The authors of this chapter cover genetic defects of beta-cell function, including maturity-onset diabetes of the young (MODY syndromes) and mitochondrial DNA mutations; defects in insulin action, including type A insulin resistance, type A syndrome subtypes, variant of type A syndrome, lipoatrophic diabetes, and type B insulin resistance; diseases of the exocrine pancreas, including acute and chronic pancreatitis, cystic fibrosis, hemochromatosis, and malnutrition-related diabetes, i.e., fibrocalculous pancreatopathy; and endocrinopathies, including acromegaly, Cushing's syndrome, glucagonoma, pheochromocytoma, thyrotoxicosis, somatostatinoma, and aldosteronoma. 1 table. 19 references.
Full Record Printer Friendly Version
Hemochromatosis Cookbook: Recipes And Menus for Reducing the Absorption of Iron in Your Diet. Nashville, TN: Cumberland House Publishing. 2008. 300 p.
This cookbook offers recipes, nutritional information, and meal planning ideas for people with hemochromatosis, an inherited metabolic iron disorder. For people with hemochromatosis, controlling the intake and absorption of iron contributes to wellness and the prevention of chronic complications. The introductory information explains iron imbalances, including hereditary hemochromatosis, acquired iron overload, anemia, and iron avidity. The body has no natural way to excrete iron excesses, and in people with iron overload disorders, over time the metal can accumulate to toxic levels throughout the body including the liver, heart, pancreas, brain, pituitary gland, bone marrow, and joints. The author answers a number of common questions about metabolic iron disorders, focusing on the role of a diet that prevents some iron absorption. Recipes are presented in 11 categories: appetizers, beverages, soups and stews, salads, salad dressings, breads, sandwiches, main dishes, side dishes, sauces, and desserts. Recipes include ingredients lists, preparation instructions, the heme and nonheme iron value per serving, and a list of other items that help inhibit absorption of nonheme iron, such as calcium, dairy phosphate, eggs, phytate phosphorus, and polyphenols. The book includes food values and tips for reduced fat, sodium, and sugar menu items; simple menu planners for a typical week; blank worksheets to aid in tracking iron intake; a shopping checklist with reminders about iron content; a chart showing the iron contents of common foods and vitamin supplements; a glossary of cooking terms; a section of dietary success stories from people living with hemochromatosis; and information specifically for patients with both hemochromatosis and diabetes. Subject and recipe indexes conclude the cookbook.
Full Record Printer Friendly Version
Displaying all search results.
Start a new search.
|
