Liver transplantation normalizes serum hepcidin level and cures iron metabolism alterations in HFE hemochromatosis

Hepatology

Volumn 59, Issue 3, 2014, Pages 839-847

  Bardou Jacquet, Edouard ^a,b   Philip, Julie ^a   Lorho, Richard ^a,c   Ropert, Martine ^a,c   Latournerie, Marianne ^a   Houssel Debry, Pauline ^a,c   Guyader, Dominique ^a,b   Loréal, Olivier ^a,b   Boudjema, Karim ^b,c   Brissot, Pierre ^a,b  

^a RENNES UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE RENNES 1   (France)

^c PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

HEPCIDIN; HFE PROTEIN; IRON; TRANSFERRIN;

ADULT; AGED; ARTICLE; BLOOD LEVEL; CAUSE OF DEATH; CLINICAL ARTICLE; CONTROLLED STUDY; FERRITIN BLOOD LEVEL; FOLLOW UP; GENE MUTATION; HEMOCHROMATOSIS; HEPCIDIN BLOOD LEVEL; HEREDITARY HEMOCHROMATOSIS; HEREDITARY SPHEROCYTOSIS; HUMAN; IRON BLOOD LEVEL; IRON DEFICIENCY ANEMIA; IRON DEPLETION; IRON METABOLISM; IRON METABOLISM DISORDER; IRON OVERLOAD; LIVER DISEASE; LIVER TRANSPLANTATION; METABOLIC SYNDROME X; MIDDLE AGED; MORTALITY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; POPULATION; PRIORITY JOURNAL; SURVIVAL;

ADULT; AGED; CARCINOMA, HEPATOCELLULAR; DATABASES, FACTUAL; FEMALE; FOLLOW-UP STUDIES; HEMOCHROMATOSIS; HEPCIDINS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON; KAPLAN-MEIER ESTIMATE; LIVER DISEASES; LIVER DISEASES, ALCOHOLIC; LIVER NEOPLASMS; LIVER TRANSPLANTATION; MALE; MEMBRANE PROTEINS; MIDDLE AGED;

EID: 84896739882     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.26570     Document Type: Article

References (40)

1. Simon M, Bourel M, Genetet B, Fauchet R. Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med 1977;297:1017-1021.
2. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
3. Brissot P, Bardou-Jacquet E, Jouanolle AM, Loreal O. Iron disorders of genetic origin: a changing world. Trends Mol Med 2011;17:707-713.
4. Parkkila S, Waheed A, Britton RS, Feder JN, Tsuchihashi Z, Schatzman RC, et al. Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci U S A 1997;94:2534-2539.
5. Parkkila S, Niemela O, Britton RS, Fleming RE, Waheed A, Bacon BR, et al. Molecular aspects of iron absorption and HFE expression. Gastroenterology 2001;121:1489-1496.
6. Park CH, Valore EV, Waring AJ, Ganz T. Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem 2001;276:7806-7810.
7. Pigeon C, Ilyin G, Courselaud B, Leroyer P, Turlin B, Brissot P, et al. A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem 2001;276:7811-7819.
8. Nemeth E, Tuttle MS, Powelson J, Vaughn MB, Donovan A, Ward DM, et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 2004;306:2090-2093.
9. van Dijk BA, Laarakkers CM, Klaver SM, Jacobs EM, van Tits LJ, Janssen MC, et al. Serum hepcidin levels are innately low in HFE-related haemochromatosis but differ between C282Y-homozygotes with elevated and normal ferritin levels. Br J Haematol 2008;142:979-985.
10. Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A 1998;95:1472-1477.
11. D'Alessio F, Hentze MW, Muckenthaler MU. The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation. J Hepatol 2012.
12. Goswami T, Andrews NC. Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. J Biol Chem 2006;281:28494-28498.
13. Zhou XY, Tomatsu S, Fleming RE, Parkkila S, Waheed A, Jiang J, et al. HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc Natl Acad Sci U S A 1998;95:2492-2497.
14. Ahmad KA, Ahmann JR, Migas MC, Waheed A, Britton RS, Bacon BR, et al. Decreased liver hepcidin expression in the Hfe knockout mouse. Blood Cells Mol Dis 2002;29:361-366.
15. Vujic Spasic M, Kiss J, Herrmann T, Galy B, Martinache S, Stolte J, et al. Hfe acts in hepatocytes to prevent hemochromatosis. Cell Metab 2008;7:173-178.
16. Gao J, Chen J, De Domenico I, Koeller DM, Harding CO, Fleming RE, et al. Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice. Blood 2010;115:3374-3381.
17. Garuti C, Tian Y, Montosi G, Sabelli M, Corradini E, Graf R, et al. Hepcidin expression does not rescue the iron-poor phenotype of Kupffer cells in Hfe-null mice after liver transplantation. Gastroenterology 2010;139:315-322 e311.
18. Adams PC, McAlister V, Chakrabarti S, Levstik M, Marotta P. Is serum hepcidin causative in hemochromatosis? Novel analysis from a liver transplant with hemochromatosis. Can J Gastroenterol 2008;22:851-853.
19. Dwyer JP, Sarwar S, Egan B, Nolan N, Hegarty J. Hepatic iron overload following liver transplantation of a C282y homozygous allograft: a case report and literature review. Liver Int 2011;31:1589-1592.
20. Ismail MK, Martinez-Hernandez A, Schichman S, Chaudhry S, Waters B. Transplantation of a liver with the C282Y mutation into a recipient heterozygous for H63D results in iron overload. Am J Med Sci 2009;337:138-142.
21. Adams PC, Jeffrey G, Alanen K, Chakrabarti S, Preshaw R, Howson W, et al. Transplantation of haemochromatosis liver and intestine into a normal recipient. Gut 1999;45:783.
22. Adams PC, Ghent CN, Grant DR, Frei JV, Wall WJ. Transplantation of a donor liver with haemochromatosis: evidence against an inherited intrahepatic defect. Gut 1991;32:1082-1083.
23. Kilpe VE, Krakauer H, Wren RE. An analysis of liver transplant experience from 37 transplant centers as reported to Medicare. Transplantation 1993;56:554-561.
24. Kowdley KV, Hassanein T, Kaur S, Farrell FJ, Van Thiel DH, Keeffe EB, et al. Primary liver cancer and survival in patients undergoing liver transplantation for hemochromatosis. Liver Transpl Surg 1995;1:237-241.
25. Tung BY, Farrell FJ, McCashland TM, Gish RG, Bacon BR, Keeffe EB, et al. Long-term follow-up after liver transplantation in patients with hepatic iron overload. Liver Transpl Surg 1999;5:369-374.
26. Crawford DH, Fletcher LM, Hubscher SG, Stuart KA, Gane E, Angus PW, et al. Patient and graft survival after liver transplantation for hereditary hemochromatosis: implications for pathogenesis. Hepatology 2004;39:1655-1662.
27. Kowdley KV, Brandhagen DJ, Gish RG, Bass NM, Weinstein J, Schilsky ML, et al. Survival after liver transplantation in patients with hepatic iron overload: the national hemochromatosis transplant registry. Gastroenterology 2005;129:494-503.
28. Kroot JJ, van Herwaarden AE, Tjalsma H, Jansen RT, Hendriks JC, Swinkels DW. Second round robin for plasma hepcidin methods: first steps toward harmonization. Am J Hematol;87:977-983.
29. Gandon Y, Olivie D, Guyader D, Aube C, Oberti F, Sebille V, et al. Non-invasive assessment of hepatic iron stores by MRI. Lancet 2004;363:357-362.
30. Dabkowski PL, Angus PW, Smallwood RA, Ireton J, Jones RM. Site of principal metabolic defect in idiopathic haemochromatosis: insights from transplantation of an affected organ. BMJ 1993;306:1726.
31. Koskinas J, Portmann B, Lombard M, Smith T, Williams R. Persistent iron overload 4 years after inadvertent transplantation of a haemochromatotic liver in a patient with primary biliary cirrhosis. J Hepatol 1992;16:351-354.
32. Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, Delatycki MB, Nicoll AJ, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008;358:221-230.
33. Muckenthaler M, Roy CN, Custodio AO, Minana B, deGraaf J, Montross LK, et al. Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. Nat Genet 2003;34:102-107.
34. Nicolas G, Viatte L, Lou DQ, Bennoun M, Beaumont C, Kahn A, et al. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. Nat Genet 2003;34:97-101.
35. O'Glasser AY, Scott DL, Corless CL, Zaman A, Sasaki A, Gopal DV, et al. Hepatic and cardiac iron overload among patients with end-stage liver disease referred for liver transplantation. Clin Transplant 2010;24:643-651.
36. Ludwig J, Hashimoto E, Porayko MK, Moyer TP, Baldus WP. Hemosiderosis in cirrhosis: a study of 447 native livers. Gastroenterology 1997;112:882-888.
37. Deugnier Y, Turlin B, le Quilleuc D, Moirand R, Loreal O, Messner M, et al. A reappraisal of hepatic siderosis in patients with end-stage cirrhosis: practical implications for the diagnosis of hemochromatosis. Am J Surg Pathol 1997;21:669-675.
38. Brandhagen DJ, Alvarez W, Therneau TM, Kruckeberg KE, Thibodeau SN, Ludwig J, et al. Iron overload in cirrhosis-HFE genotypes and outcome after liver transplantation. Hepatology 2000;31:456-460.
39. Yu L, Ioannou GN. Survival of liver transplant recipients with hemochromatosis in the United States. Gastroenterology 2007;133:489-495.
40. Fracanzani AL, Piperno A, Valenti L, Fraquelli M, Coletti S, Maraschi A, et al. Hemochromatosis in Italy in the last 30 years: role of genetic and acquired factors. Hepatology 2010;51:501-510.