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hemochromatosis guidelines

Paul Adams, Albert Altes, Pierre Brissot, Barbara Butzeck, Ioav Cabantchik, Rodolfo Cançado, Sonia Distante, Patricia Evans, Robert Evans, Tomas Ganz, Domenico Girelli, Rolf Hultcrantz, Gordon McLaren, Ben Marris, Nils Milman, Elizabeta Nemeth, Peter Nielsen, Brigitte Pineau, Alberto Piperno, Graça Porto, Dianne Prince, John Ryan, Mayka Sanchez, Paulo Santos, Dorine Swinkels, Emerência Teixeira, Ketil Toska, Annick Vanclooster, Desley White
Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training. This final version was approved at the Hemochromatosis International meeting on 12th May 2017 in Los Angeles...
March 27, 2018: Hepatology International
Guy Rostoker, Nosratola D Vaziri
Iron overload was considered rare in hemodialysis patients until recently, but its clinical frequency is now increasingly recognized. The liver is the main site of iron storage and the liver iron concentration (LIC) is closely correlated with total iron stores in patients with secondary hemosiderosis and genetic hemochromatosis. Magnetic resonance imaging (MRI) is now the gold standard method for estimating and monitoring LIC. Studies of LIC in hemodialysis patients by magnetic susceptometry thirteen years ago and recently by quantitative MRI have demonstrated a relation between the risk of iron overload and the use of intravenous (IV) iron products prescribed at doses determined by the iron biomarker cutoffs contained in current anemia management guidelines...
December 2017: La Presse Médicale
Maria Teresa Urbina, Isaac Benjamin, Randolfo Medina, José Jiménez, Laura Trías, Jorge Lerner
OBJECTIVE: To discuss the implications of expanded genetic carrier screening for preconception purposes based on our practice. METHODS: One hundred and forty-three potential gamete donors aged 20-32 years old (µ=24, 127 females and 16 males), signed informed consent forms and were selected according to the REDLARA guidelines. Blood or saliva samples were examined by one of these genetic carrier screening methods: Genzyme screening for Cystic Fibrosis (CF), Fragile X and Spinal Muscular Atrophy (SMA); Counsyl Universal panel or Recombine Carrier Map...
December 1, 2017: JBRA Assisted Reproduction
Yaolin Zhou, Gary W Procop, Jacquelyn D Riley
CONTEXT: - The incorporation of best practice guidelines into one's institution is a challenging goal of utilization management, and the successful adoption of such guidelines depends on institutional context. Laboratorians who have access to key clinical data are well positioned to understand existing local practices and promote more appropriate laboratory testing. OBJECTIVE: - To apply a novel approach to utilization management by reviewing international clinical guidelines and current institutional practices to create a reliable mechanism to improve detection and reduce unnecessary tests in our patient population...
October 5, 2017: Archives of Pathology & Laboratory Medicine
Turid Aarhus Braseth, Tor Hervig, Anne Synnove Rosvik
The voluntary, unpaid, altruistic blood donor is a cornerstone of current transfusion medicine. The complexity of medical and ethical issues related to blood donation and hemochromatosis has led to a large number of studies related to the safety of the hemochromatosis donor and the quality of the blood components produced from these donations. The issue of accepting persons with HC as blood donors is diverting, both in Europe and worldwide and without joint guidelines. A questionnaire-based study was performed and mailed to all 25 blood bank leaders in Norway...
June 2017: Transfusion and Apheresis Science
Edouard Bardou-Jacquet, Fabrice Lainé, Pascal Guggenbuhl, Jeff Morcet, Caroline Jézéquel, Dominique Guyader, Romain Moirand, Yves Deugnier
BACKGROUND & AIMS: Even if patients with hemochromatosis maintain low serum levels of ferritin, they still have an increased risk of general and joint symptoms, which reduce quality of life. This could be related to persistently increased transferrin saturation. We assessed whether duration of exposure to increased transferrin saturation during maintenance therapy is associated with more severe general and joint symptoms. METHODS: We performed a longitudinal cohort study of 266 individuals homozygous for the C282Y substitution in HFE, seen at a tertiary reference center in Rennes, France, and followed for 3 or more years after initial iron removal...
January 20, 2017: Clinical Gastroenterology and Hepatology
Paul Y Kwo, Stanley M Cohen, Joseph K Lim
Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase and bilirubin. These tests should be termed liver chemistries or liver tests. Hepatocellular injury is defined as disproportionate elevation of AST and ALT levels compared with alkaline phosphatase levels. Cholestatic injury is defined as disproportionate elevation of alkaline phosphatase level as compared with AST and ALT levels...
January 2017: American Journal of Gastroenterology
Katsuya Ikuta, Mayumi Hatayama, Lynda Addo, Yasumichi Toki, Katsunori Sasaki, Yasuaki Tatsumi, Ai Hattori, Ayako Kato, Koichi Kato, Hisao Hayashi, Takahiro Suzuki, Masayoshi Kobune, Miyuki Tsutsui, Akihiko Gotoh, Yasuo Aota, Motoo Matsuura, Yuzuru Hamada, Takahiro Tokuda, Norio Komatsu, Yutaka Kohgo
Transfusion is believed to be the main cause of iron overload in Japan. A nationwide survey on post-transfusional iron overload subsequently led to the establishment of guidelines for iron chelation therapy in this country. To date, however, detailed clinical information on the entire iron overload population in Japan has not been fully investigated. In the present study, we obtained and studied detailed clinical information on the iron overload patient population in Japan. Of 1109 iron overload cases, 93.1% were considered to have occurred post-transfusion...
March 2017: International Journal of Hematology
Kyung Hee Kim, Ki Young Oh
Phlebotomy is the removal of blood from the body, and therapeutic phlebotomy is the preferred treatment for blood disorders in which the removal of red blood cells or serum iron is the most efficient method for managing the symptoms and complications. Therapeutic phlebotomy is currently indicated for the treatment of hemochromatosis, polycythemia vera, porphyria cutanea tarda, sickle cell disease, and nonalcoholic fatty liver disease with hyperferritinemia. This review discusses therapeutic phlebotomy and the related disorders and also offers guidelines for establishing a therapeutic phlebotomy program...
2016: Journal of Blood Medicine
Guy Rostoker, Nosratola D Vaziri, Steven Fishbane
Iron overload used to be considered rare in hemodialysis patients but its clinical frequency is now increasingly realized. The liver is the main site of iron storage and the liver iron concentration (LIC) is closely correlated with total iron stores in patients with secondary hemosideroses and genetic hemochromatosis. Magnetic resonance imaging is now the gold standard method for LIC estimation and monitoring in non-renal patients. Studies of LIC in hemodialysis patients by quantitative magnetic resonance imaging and magnetic susceptometry have demonstrated a strong relation between the risk of iron overload and the use of intravenous (IV) iron products prescribed at doses determined by the iron biomarker cutoffs contained in current anemia management guidelines...
May 2016: Drugs
You-Lin Tain, Hsing Luh, Ching-Yuang Lin, Chien-Ning Hsu
Congenital anomalies of the kidney and urinary tract (CAKUT) are 1 of the major factors in young adults needing renal replacement therapy, but there is little extensive assessment of their incidence and risk factors. This study aimed to evaluate trends in the incidence of and risk factors for CAKUT among all births in Taiwan.This population-based case-control study design was conducted using the Taiwan national births registry, which contains detailed information about maternal health and characteristics of newborns, supplied by health professionals...
February 2016: Medicine (Baltimore)
Graça Porto, Pierre Brissot, Dorine W Swinkels, Heinz Zoller, Outi Kamarainen, Simon Patton, Isabel Alonso, Michael Morris, Steve Keeney
Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference test to confirm the diagnosis of suspected HH or to predict its risk. The vast majority (typically >90%) of patients with clinically characterized HH are homozygous for the p.C282Y variant in the HFE gene, referred to as HFE-related HH. Since 1996, HFE genotyping was implemented in diagnostic algorithms for suspected HH, allowing its early diagnosis and prevention. However, the penetrance of disease in p.C282Y homozygotes is incomplete...
April 2016: European Journal of Human Genetics: EJHG
Sule Unal, Alberto Piperno, Fatma Gumruk
Ferroportin disease is a rare type of autosomal dominantly inherited hemochromatosis caused with mutations in the ferroportin gene (SLC40A1). The patients characteristically have hyperferritinemia but normal transferin saturations. Herein, we present a 15-year-old female whose chief complaint was persistent nausea for the last one year. Extensive work-up including brain imaging revealed nothing to explain the etiology of nausea. The serum ferritin level of 1474ng/mL was suggestive for hemochromatosis syndromes and the molecular testing revealed de-novo c...
April 2015: Journal of Trace Elements in Medicine and Biology
Matthew B Lanktree, Bruce B Lanktree, Guillaume Paré, John S Waye, Bekim Sadikovic, Mark A Crowther
BACKGROUND: Hereditary hemochromatosis leads to an increased lifetime risk for end-organ damage due to excess iron deposition. Guidelines recommend that genetic testing be performed in patients with clinical suspicion of iron overload accompanied by elevated serum ferritin and transferrin saturation levels. OBJECTIVE: To evaluate guideline adherence and the clinical and economic impact of HFE genetic testing. METHODS: The electronic charts of patients submitted for HFE testing in 2012 were reviewed for genetic testing results, biochemical markers of iron overload and clinical history of phlebotomy...
January 2015: Canadian Journal of Gastroenterology & Hepatology
Paul C Adams
No abstract text is available yet for this article.
January 2015: Canadian Journal of Gastroenterology & Hepatology
Andreia Silva Evangelista, Maria Cristina Nakhle, Thiago Ferreira de Araújo, Clarice Pires Abrantes-Lemos, Marta Mitiko Deguti, Flair José Carrilho, Eduardo Luiz Rachid Cançado
Iron abnormalities in chronic liver disease may be the result of genetic diseases or secondary factors. The present study aimed to identify subjects with HFE-HH in order to describe the frequency of clinical manifestations, identify risk factors for iron elevation, and compare the iron profile of HFE-HH to other genotypes in liver disease patients. A total of 108 individuals with hepatic disease, transferrin saturation (TS) > 45%, and serum ferritin (SF) > 350 ng/mL were tested for HFE mutations. Two groups were characterized: C282Y/C282Y or C282Y/H63D genotypes (n = 16) were the HFE hereditary hemochromatosis (HFE-HH) group; and C282Y and H63D single heterozygotes, the H63D/H63D genotype, and wild-type were considered group 2 (n = 92)...
2015: BioMed Research International
Elliot B Tapper, Vilas R Patwardhan, Michael Curry
BACKGROUND: Alpha-1 antitrypsin (AAT) deficiency is often evaluated in patients with liver disease of unknown etiology. AIMS: We aimed to describe the practice and yield of AAT testing at a large clinical laboratory. METHODS: This is the retrospective cohort study of all patients with AAT measurements at one major clinical laboratory between 2003 and 2012. RESULTS: AAT was measured in 4,985 patients by more than 339 physicians...
June 2015: Digestive Diseases and Sciences
Ludivine Legros, Edouard Bardou-Jacquet, Marianne Latournerie, Anne Guillygomarc'h, Bruno Turlin, Caroline Le Lan, Yoann Désille, Fabrice Lainé, Romain Moirand, Pierre Brissot, Yves Deugnier, Dominique Guyader
BACKGROUND & AIMS: C282Y homozygotes with serum ferritin (SF) levels >1000 μg/L and/or increased serum transaminase levels are at risk of severe F3/F4 fibrosis. Current practical guidelines recommend liver biopsy in such individuals. This prospective observational cohort study aimed to evaluate non-invasive alternative means such as hyaluronic acid (HA) and transient elastography (TE) for the assessment of severe fibrosis in patients with SF >1000 μg/L or elevated transaminases...
June 2015: Liver International: Official Journal of the International Association for the Study of the Liver
Annick Vanclooster, David Cassiman, Werner Van Steenbergen, Dorine W Swinkels, Mirian C H Janssen, Joost P H Drenth, Bert Aertgeerts, Hub Wollersheim
BACKGROUND AND OBJECTIVES: Hereditary haemochromatosis (HH) is the most prevalent genetic liver disease, with an incidence of 1/200 to 1/400 in the Caucasian population. HH patients are treated by family physicians as well as different specialists. When left untreated or insufficiently treated, the complications can become life threatening. To support and evaluate qualitative care for HH, we evaluated and compared the available structured guidelines on screening, diagnosis and management of HH patients...
April 2015: Clinics and Research in Hepatology and Gastroenterology
Maria Sarigianni, Aris Liakos, Efthymia Vlachaki, Paschalis Paschos, Eleni Athanasiadou, Victor M Montori, Mohammad Hassan Murad, Apostolos Tsapas
BACKGROUND & AIMS: Guidelines advocate use of magnetic resonance imaging (MRI) to estimate concentrations of iron in liver, to identify patients with iron overload, and to guide titration of chelation therapy. However, this recommendation was not based on a systematic synthesis and analysis of the evidence for MRI's diagnostic accuracy. METHODS: We conducted a systematic review and meta-analysis to investigate the diagnostic accuracy of MRI in identifying liver iron overload in patients with hereditary hemochromatosis, hemoglobinopathy, or myelodysplastic syndrome; liver biopsy analysis was used as the reference standard...
January 2015: Clinical Gastroenterology and Hepatology
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