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Your search term(s) "wilson disease" returned 19 results.
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Diagnosis and Treatment of Wilson Disease: An Update. Hepatology. 47(6): 2089-2111. June 2008.
This article presents the American Association for the Study of Liver Diseases (AASLD) practice guidelines on the diagnosis and treatment of Wilson disease. The recommendations are based on formal review and analysis of the recent literature, the American College of Physicians Manual for Assessing Health Practices and Designing Practice Guidelines[bam1], guideline policies, and the experience of the authors in the specified topic. Wilson disease is a genetic condition characterized by the collection of copper in the liver, which results in damage to the liver and eventually in release of copper into the bloodstream. The copper is subsequently deposited in other organs, notably the brain, kidneys, and cornea. Wilson disease is usually treated with a chelating agent, D-penicillamine. Other treatments are available, including liver transplantation, which may be lifesaving and curative for this disorder. The guidelines cover clinical features, diagnostic approaches and laboratory tests, diagnosis in specific target populations such as patients in acute liver failure, and available treatments, including D-penicillamine, trientine, zinc, antioxidants, diet, and ammonium tetrathiomolybdate. The guidelines consider treatment in specific clinical situations, including asymptomatic patients, maintenance therapy, decompensated cirrhosis, acute liver failure, and pregnancy. A final section briefly considers treatment targets and monitoring of treatment. 3 figures. 3 tables. 253 references.
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Liver Disease and Pregnancy. IN: Hauser, S., ed. Mayo Clinic Gastroenterology and Hepatology Board Review. 3rd ed. New York, NY: Informa Healthcare USA. 2008. pp 419-430.
This chapter on liver disease and pregnancy is from a comprehensive textbook that provides an in-depth examination of essential knowledge in gastroenterology, hepatology, and the related areas of pathology, endoscopy, nutrition, and radiology. The author notes that because most pregnant women are young and healthy, liver disease is uncommon in this patient population. The presence of liver disease should not be confused with some of the physiologic changes of pregnancy that mimic features commonly associated with liver dysfunction. The chapter divides liver diseases during pregnancy into three categories: chronic liver disease and portal hypertension, liver disease coincidental with pregnancy, and liver disease unique to pregnancy. Specific conditions covered include chronic hepatitis B, hepatitis C, autoimmune disease, Wilson’s disease, cirrhosis of any cause, extrahepatic portal hypertension, acute viral hepatitis, Budd-Chiari syndrome, gallstones, drug-induced liver disease, intrahepatic cholestasis of pregnancy, hyperemesis gravidarum, preeclampsia, HELLP syndrome, and acute fatty liver of pregnancy. For each condition, particularly those in the last category, the author discusses clinical features and diagnosis, incidence and cause, and patient care management, including concerns for both mother and fetus. 2 figures. 4 tables. 7 references.
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Metabolic Liver Disease. IN: Hauser, S., ed. Mayo Clinic Gastroenterology and Hepatology Board Review. 3rd ed. New York, NY: Informa Healthcare USA. 2008. pp 363-376.
This chapter on metabolic liver disease is from a comprehensive textbook that provides an in-depth examination of essential knowledge in gastroenterology, hepatology, and the related areas of pathology, endoscopy, nutrition, and radiology. The author notes that metabolic liver diseases include inborn errors of carbohydrate metabolism, protein, metabolism, lipid metabolism, bile acid metabolism, copper metabolism, and iron metabolism. The chapter focuses on hereditary hemochromatosis, Wilson’s disease, and alpha-1 antitrypsin (AAT) deficiency because they are the metabolic liver diseases most gastroenterologists are likely to encounter. Hereditary hemochromatosis is an autosomal recessive disorder associated with increased intestinal absorption of iron and the deposition of excessive amounts of iron in the liver, pancreas, and other organs. Treatment for hereditary hemochromatosis is usually reserved for patients with evidence of iron overload. Therapeutic phlebotomy is the preferred treatment because it is simple, effective, and relatively inexpensive. Wilson’s disease is an autosomal recessive disorder characterized by abnormal intrahepatic copper metabolism and deposition of excess copper in the liver, brain, cornea, and other organs. Penicillamine has been used as first-line treatment for Wilson’s disease. Because up to 20 percent of patients on this drug experience toxicity, it is recommended that therapy start with trientine. AAT deficiency is an autosomal codominant disorder characterized by lung and liver injury. No effective medical treatment is available for the liver manifestations of AAT deficiency. However, liver transplantation can be a definitive treatment. Patient care diagnostic algorithms are included. The chapter includes full-color illustrations. 6 figures. 2 tables. 13 references.
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Wilson Disease. Bethesda, MD: National Digestive Diseases Information Clearinghouse. 2008. 6 p.
Wilson disease is a genetic disorder that prevents the body from getting rid of extra copper. In this disorder, copper builds up in the liver, brain, eyes, and other organs and can cause life-threatening organ damage. This fact sheet, written in a question-and-answer format, provides basic information about Wilson disease. Topics include who gets Wilson disease, the causes of the disease, the signs and symptoms, diagnostic tests that can be used to confirm the presence of Wilson disease, who should be screened for Wilson disease, and treatment approaches. Wilson disease usually first attacks the liver, the central nervous system, or both. Symptoms can include swelling of the liver or spleen, jaundice, fluid buildup in the legs or abdomen, a tendency to bruise easily, and fatigue. Kayser-Fleischer rings result from a buildup of copper in the eyes and are the most unique sign of Wilson disease; they appear in each eye as a rusty-brown ring around the edge of the iris and in the rim of the cornea. Anyone with unexplained liver disease or neurologic symptoms with evidence of liver disease should be screened for Wilson disease. Wilson disease requires lifelong treatment to reduce and control the amount of copper in the body. However, if the disorder is detected early and treated effectively, people with Wilson disease can enjoy good health. The fact sheet concludes with a brief report of recent research in this area, a list of two organizations that can provide additional information, and the contact information and summary of the activities of the National Digestive Diseases Information Clearinghouse (NDDIC).
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Wilson Disease: Maintaining a Successful Treatment Plan. A Patient Handbook. Wooster, OH: Wilson’s Disease Association International. 2008. 29 p.
This handbook is designed to help patients with Wilson disease learn about and use strategies, in conjunction with their health care providers, to manage their condition. Wilson disease is a genetic metabolic disorder characterized by the accumulation of copper in the liver and other tissues. The author stresses that the patient’s job is to be observant in monitoring and noting subtle changes in physical or emotional symptoms, laboratory values, or other difficulties they may experience to help health care providers determine the ongoing course of treatment. The handbook offers five chapters: medical care, medications, diet and nutrition, special circumstances, and family concerns and genetics. Three appendices are included: a glossary of medical terms, a glossary of genetic terms, and a Wilson disease patient lab tracker, which provides a recordkeeping form for patients to help keep track of their health care status. A list of references and blank space for reader’s notes concludes the document. 2 figures. 4 tables. 10 references.
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Basic Research on Model Systems: Essential to Understanding the Causes And Treatments For Wilson's Disease And Disorders of Copper Metabolism. Copper Connection. p 10-11. September 2007.
This article, from a newsletter of the Wilson’s Disease Association, helps readers understand the basic physiology that underlies Wilson’s disease (WD) and other disorders of copper metabolism. The authors explain the reductionist approach to research, the use of model experimental systems such as microbes and mice to study copper homeostasis, other research model systems that are used for studies of Wilson’s disease, and the role of biochemistry. The authors note that using model systems such as the laboratory mouse, the zebrafish, and fruit flies has enabled the identification of genes and their encoded proteins that underlie Wilson’s disease and related disorders. These same model systems may be used to test the effectiveness of new drugs to treat Wilson’s disease or to uncover potential adverse effects of long-term treatment.
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Diagnosis and Long-Term Management of Wilson Disease. Gastroenterology and Hepatology. 3(1): 27-29. January 2007.
This article answers common questions that physicians may have regarding the diagnosis and long-term management of patients with Wilson disease. The article begins with a review of the pathophysiology of Wilson disease, an inherited disorder of copper metabolism. Dietary copper is absorbed by the gut and accumulates in the liver, leading to oxidative damage within the liver cells; this damage leads to the development of steatohepatitis, followed by fibrosis and cirrhosis. The author describes the natural course of the disease, the typical initial presentation of patients with Wilson disease, treatment options for these patients, salvage therapy other than transplantation for patients with advanced chronic Wilson disease, the prioritization of patients with Wilson disease for liver transplantation, the long-term prognosis of Wilson disease patients who respond to standard medical therapy, and associated conditions and complications in older patients with Wilson disease. 4 references.
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Liver Diseases in Pregnancy. IN: Pregnancy in Gastrointestinal Diseases. 2nd ed. Bethesda, MD: American College of Gastroenterology. 2007. pp 32-53.
This chapter about liver diseases in pregnancy is from a monograph that presents updated information about pregnancy in women with gastrointestinal disorders. The authors stress that a complete understanding of the physiological changes that affect pregnancy and of the different liver diseases that occur during pregnancy is essential for early recognition and management of pregnancy-associated liver disorders. The chapter focuses on bringing readers up to date on the research in the area covered, the recommended treatments, and patient management concerns, notably issues of maternal and fetal safety. Separate sections discuss the physiological changes that affect pregnancy, diagnostic imaging tests used in pregnancy, liver disorders that are exclusive or unique to pregnancy, liver diseases that may occur during pregnancy or intercurrent liver diseases in pregnancy, and changes that occur when a woman with a pre-existing liver disease becomes pregnant. Specific conditions discussed include hepatic involvement in hyperemesis gravidarum, acute fatty liver of pregnancy (AFLP), intrahepatic cholestasis of pregnancy (IHCP), hemolysis, elevated liver enzymes and low platelets syndrome (HELLP syndrome), viral hepatitis, HIV infection, herpes simplex viral infections, cytomegalovirus infection (CMV), alcohol use, portal hypertension, autoimmune hepatitis (AIH), Wilson disease, primary biliary cirrhosis and primary sclerosing cholangitis, Budd-Chiari syndrome, gallstone disease in pregnancy, and liver transplant. The authors conclude that preventive measures, including early prenatal care, avoidance of risky behaviors that could increase a woman’s chance of acquiring infections, and cessation of smoking and drinking alcohol are vital in decreasing morbidity and mortality in pregnancy. Although liver disease in pregnancy is associated with an increased risk for morbidity and mortality, clinical outcomes have improved for both mother and baby, and pregnancy is not contraindicated in patients with liver disease or in patients who have had a liver transplant. 3 tables. 54 references.
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Old School in Old Europe? D-Penicillamine Remains Important For the Treatment of Wilson's Disease. Copper Connection. p 8-9. September 2007.
This article, from a newsletter of the Wilson’s Disease Association, reports on the use of D-penicillamine to treat Wilson’s disease (WD). The authors first remind readers of the difficulties often encountered in the diagnosis of WD and then describe the initial approach to medical management, which should involve chelating agents such as D-penicillamine or Trientine. The article addresses concerns about the side effects of D-penicillamine, which include hypersensitivity reactions, particularly in the early treatment phase. Although Trientine is considered a gentler treatment option than D-penicillamine, the latter is still used widely throughout Europe. The authors report on the idiosyncrasies of the health insurance system in Germany that only pays for D-penicillamine, not Trientine, for this indication. The article concludes by encouraging patients to utilize support groups for information and comfort when dealing with this lifelong disease.
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Diagnosing and Misdiagnosing Patients with Hepatic Wilson's Disease. Copper Connection. p. 5. June 2006.
This brief newsletter article reports on the continuing difficulties of diagnosis for patients with hepatic Wilson’s disease (HWD). The author notes that the first barrier to diagnosis is failure to consider HWD in the differential diagnosis because it is rare. Misinformation about HWD may limit diagnostic testing and result in failure to diagnose. The author recommends testing for serum copper, serum ceruloplasmin, and 24 hour urine for total copper. Slip lamp evaluation for Kayser-Fleischer rings of the cornea is helpful when positive, but they are less often present in HWD, compared to their uniform presence in WD with neurological symptoms. Another barrier to an accurate diagnosis is a lack of familiarity with the spectrum of presentations of HWD and the wide age range of afflicted patients. The author provides guidelines for the testing of adults suspected of HWD, including the use of liver biopsy. 1 figure.
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Liver Biopsies in the Treatment of Wilson’s Disease. Copper Connection. p 7. March 2006.
This brief newsletter article considers the role of liver biopsies in the treatment of Wilson's disease, a condition characterized by copper accumulation in the body. Liver biopsies can provide information about the amount of copper in the liver, if the samples are properly collected and analyzed. The biopsy can also provide a snapshot of the extent of scar tissue and inflammation in the liver. The author outlines the use and indications of liver biopsy, situations where repeated biopsies may not be recommended, and the possibility of a secondary illness that may cause liver damage. A final section reminds readers that zinc acetate is the only form of zinc salt approved by the United States FDA for use in the treatment of Wilson's disease.
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Liver Disease in Pregnancy. IN: Lichtenstein, G.; Reddy, K.R.; Faust, T., eds. Clinician’s Guide to Liver Disease. Thorofare, NJ: Slack Incorporated. 2006. pp 211-232.
This chapter about liver disease in pregnancy is from a user-friendly reference book that provides gastroenterologists with an overview of the management of acute and chronic liver disease. The authors stress that because early diagnosis and timely intervention can reduce perinatal and maternal morbidity and mortality, it is important to have a high index of suspicion for potential conditions affecting the liver. Gestational age is used to guide the differential diagnosis for hepatic biochemical test abnormalities during pregnancy. The chapter covers the liver in normal pregnancy, the use of imaging studies during pregnancy, intrahepatic cholestasis of pregnancy (ICP), acute fatty liver of pregnancy (AFLP), hyperemesis gravidarum, clampsia or eclampsia, the HELLP (hemolysis, elevated liver tests, low platelets) syndrome, and intercurrent liver disease in pregnancy, including cholelithiasis, Budd-Chiari syndrome, acute viral hepatitis, drug-induced liver damage, and metastases to the liver. The authors consider chronic liver disease in pregnancy, including cirrhosis, hepatitis C, autoimmune hepatitis, Wilson disease, inherited hyperbilirubinemia, and pregnancy in women who have received a liver transplant. Hyperemesis gravidarum is a first trimester condition, whereas ICP may present in the second trimester. Clampsia and the HELLP syndrome predominantly occur in the third trimester. 4 tables. 28 references.
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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.
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Monitoring People Taking Trientine and Zinc Acetate. Copper Connection. p 5. March 2006.
This brief newsletter article discusses the importance of monitoring people with Wilson's disease (a genetic disorder characterized by copper accumulation) who are taking Trientine and zinc acetate. This drug combination attacks copper on two fronts, lowering copper by raising the amount eliminated through the urine and blocking absorption of dietary copper through the gut. The author stresses that these two drugs need to be ingested at different times, as taking them together may lead to interactions in the stomach. Since both drugs need to be taken separately from food, this can lead to a challenging schedule for patients taking medications and eating carefully to be sure the drugs are given the opportunity to rid the body of the toxic copper. Monitoring for effectiveness of copper reduction involves carefully interpreting serum copper, ceruloplasmin, and twenty-four hour urinary copper and zinc levels. During initial therapy, testing should be performed at least once a year. Combination therapy is not used for maintenance treatment outside the period of initial diagnosis.
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Diagnosis of Wilson’s Disease: What Now?. Wooster, OH: Wilson’s Disease Association International. 2005. 4 p.
This brochure summarizes the care of patients diagnosed with Wilson disease, an inherited disorder of metabolism that results in copper accumulation in the organs, notably the liver. The brochure outlines recommendations to begin after confirmed diagnosis of Wilson disease in the areas of treatment goals, diet, medications, dosages for initial and maintenance treatments, and monitoring. In each section, the treatment goals are noted. A list of medications and their availability, including generic and trade names, is provided. A list of the possible toxicities of the medications commonly used to treat Wilson disease—such as penicillamine, trientine, and zinc—is also provided. The back cover of the brochure provides contact information for the Wilson’s Disease Association International.
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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.
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Diagnosis and Current Therapy of Wilson's Disease. Alimentary Pharmacology and Therapeutics. 19(2): 157-165. January 2004.
Wilson's disease is an autosomal recessive inherited disorder of liver (hepatic) copper metabolism resulting in liver disease and or neuropsychiatric disease. This article reviews the diagnosis and current therapeutic recommendations for Wilson's disease. The diagnosis of neurological disease is straightforward if the following symptoms are present: Kayser-Fleischer rings, typical neurological symptoms, and low serum ceruloplasmin levels. The diagnosis is more complex in patients presenting with liver diseases. None of the commonly used parameters alone allows a diagnosis with certainty. A combination of various laboratory parameters is needed to firmly establish the diagnosis. Recently, a group of international experts has proposed a score based on a variety of tests and clinical symptoms. The validity of this score needs to be assessed prospectively. Treatment of Wilson's disease requires life-long administration of copper chelators (D-penicillamine, trientine, zinc). None of these treatments has been tested by prospective randomized controlled studies. Liver transplantation is reserved for severe or treatment-resistant cases with advanced liver disease, whilst experience with refractory neuropsychiatric disease is limited. 3 figures. 1 table. 57 references.
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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.
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Pediatric 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. 101-109.
Pediatric liver diseases include biliary atresia, metabolic disorders, intrahepatic cholestatic disorders, alpha-1 antitrypsin deficiency liver disease, nonalcoholic steatohepatitis (NASH), autoimmune hepatitis, sclerosing cholangitis, parenteral nutrition-induced liver injury, drug-induced liver injury, Wilson disease, cystic fibrosis, and various forms of viral hepatitis. Although liver disease is uncommon in children, those liver diseases that occur tend to be severe and progressive. This chapter on pediatric 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 types of liver disease that occur in children and their symptoms, complications, etiology, and mechanisms of injury, then outline recent research advances in the areas of pathogenesis, and prevention and therapy. The authors then provide specific research goals in the areas of pathogenesis and management of biliary atresia, the molecular pathogenesis and treatment of neonatal cholestatic syndromes, the characterization and treatment of pediatric liver diseases beyond the neonatal period, and the optimization of liver transplantation in children. A final section considers the steps that would assist in achieving these research goals. 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.
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