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hemochromatosis guidelines

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 19, 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...
November 15, 2016: 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
Kathleen S Ruccione, John C Wood, Richard Sposto, Jemily Malvar, Cheng Chen, David R Freyer
BACKGROUND: Childhood cancer survivors (CCS) receiving packed red blood cell (PRBC) transfusions may have increased risk for vital organ iron deposition causing serious late effects. METHODS: This cross-sectional cohort study of a CCS cohort quantified organ iron content by magnetic resonance imaging. Iron status by serum markers and hemochromatosis gene mutation status were assessed. RESULTS: Seventy-five patients who had received a range (0-392 mL/kg) of cumulative PRBC transfusion volumes were enrolled (median age 14 years, range 8-25...
September 2014: Cancer Epidemiology, Biomarkers & Prevention
Donna Emanuele, Ivy Tuason, Quannetta T Edwards
PURPOSE: HFE-hemochromatosis is one of the most common genetic disorders in the United States among Caucasians of Northern European ancestry. The purpose of this article is to discuss HFE-associated hereditary hemochromatosis (HH), including the genetics, pathophysiology, phenotype and genotype, diagnostics, and management utilizing a case-based format as an exemplar. DATA SOURCES: Online genetic resources; professional guidelines; review; and scientific articles...
March 2014: Journal of the American Association of Nurse Practitioners
A Tannapfel
Chronic liver disease can often reliably be assessed only by examination of biopsy material. In this article the possible indications for liver biopsy in viral hepatitis B and C, autoimmune liver disease, steatohepatitis and hereditary metabolic diseases are described. A biopsy may be useful in cases with unclear clinical or serological situations or with questionable chronicity and comorbidities. The assessment of biopsy material should be based on guideline-based classification systems. The value of biopsy diagnosis benefits from a close interdisciplinary clinical pathological cooperation...
November 2013: Der Pathologe
Suzanne van Meer, Robert A de Man, Peter D Siersema, Karel J van Erpecum
Primary liver cancer is the sixth most common cancer in the world and the third cause of cancer-related death. Hepatocellular carcinoma (HCC) represents more than 90% of primary liver cancers and generally occurs in patients with underlying chronic liver disease such as viral hepatitis, hemochromatosis, primary biliary cirrhosis and non-alcoholic steatohepatitis. Especially cirrhotic patients are at risk of HCC and regular surveillance could enable early detection and therapy, with potentially improved outcome...
October 28, 2013: World Journal of Gastroenterology: WJG
Elliot B Tapper, David O Rahni, Ramy Arnaout, Michelle Lai
BACKGROUND: Wilson disease is rare, found in 3 of 100,000 people (0.03%). Ceruloplasmin is often ordered to evaluate liver enzyme elevations. Because Wilson disease often presents before middle-age, the American Association for the Study of Liver Disease recommends screening patients between the ages of 3 and 55 years with liver abnormalities of uncertain cause. We evaluate guideline adherence and the clinical and economic impact of current clinical use of ceruloplasmin. METHODS: We reviewed all ceruloplasmin measurements at a clinical laboratory that serves a large primary care network, specialty clinics, and a 600-bed tertiary referral center between January 1, 2003, and December 12, 2011...
October 2013: American Journal of Medicine
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