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Published in: Hepatology International 2/2018

Open Access 01-03-2018 | Guidelines

Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype

Authors: 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, Contributors and Hemochromatosis International Taskforce

Published in: Hepatology International | Issue 2/2018

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Abstract

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.
Literature
1.
go back to reference Vanclooster A, et al. The quality of hereditary haemochromatosis guidelines: a comparative analysis. Clin Res Hepatol Gastroenterol 2015;39(2):205–214.CrossRefPubMed Vanclooster A, et al. The quality of hereditary haemochromatosis guidelines: a comparative analysis. Clin Res Hepatol Gastroenterol 2015;39(2):205–214.CrossRefPubMed
2.
go back to reference European Association For The Study Of The Liver. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol 2010;53(1):3–22.CrossRef European Association For The Study Of The Liver. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol 2010;53(1):3–22.CrossRef
3.
go back to reference Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011;54(1):328–343.CrossRefPubMedPubMedCentral Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011;54(1):328–343.CrossRefPubMedPubMedCentral
4.
go back to reference Bardou-Jacquet E, et al. Decreased cardiovascular and extrahepatic cancer-related mortality in treated patients with mild HFE hemochromatosis. J Hepatol 2015;62(3):682–689.CrossRefPubMed Bardou-Jacquet E, et al. Decreased cardiovascular and extrahepatic cancer-related mortality in treated patients with mild HFE hemochromatosis. J Hepatol 2015;62(3):682–689.CrossRefPubMed
5.
go back to reference Ong SY, et al. Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial. Lancet Haematol 2017;4(12):607–614.CrossRef Ong SY, et al. Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial. Lancet Haematol 2017;4(12):607–614.CrossRef
6.
go back to reference Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch HJ, Strohmeyer G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med 1985;313(20):1256–1262.CrossRefPubMed Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch HJ, Strohmeyer G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med 1985;313(20):1256–1262.CrossRefPubMed
7.
go back to reference Brissot P. Optimizing the diagnosis and the treatment of iron overload diseases. Expert Rev Gastroenterol Hepatol 2016;10(3):359–370.CrossRefPubMed Brissot P. Optimizing the diagnosis and the treatment of iron overload diseases. Expert Rev Gastroenterol Hepatol 2016;10(3):359–370.CrossRefPubMed
8.
go back to reference De Buck E, Pauwels NS, Dieltjens T, Compernolle V, Vandekerckhove P. Is blood of uncomplicated hemochromatosis patients safe and effective for blood transfusion? A systematic review. J Hepatol 2012;57(5):1126–1134.CrossRefPubMed De Buck E, Pauwels NS, Dieltjens T, Compernolle V, Vandekerckhove P. Is blood of uncomplicated hemochromatosis patients safe and effective for blood transfusion? A systematic review. J Hepatol 2012;57(5):1126–1134.CrossRefPubMed
9.
go back to reference Liu J, Sun B, Yin H, Liu S. Hepcidin: a promising therapeutic target for iron disorders: a systematic review. Medicine (Baltimore) 2016;95(14):e3150.CrossRef Liu J, Sun B, Yin H, Liu S. Hepcidin: a promising therapeutic target for iron disorders: a systematic review. Medicine (Baltimore) 2016;95(14):e3150.CrossRef
Metadata
Title
Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype
Authors
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
Contributors and Hemochromatosis International Taskforce
Publication date
01-03-2018
Publisher
Springer India
Published in
Hepatology International / Issue 2/2018
Print ISSN: 1936-0533
Electronic ISSN: 1936-0541
DOI
https://doi.org/10.1007/s12072-018-9855-0

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