Liver transplantation in the management of porphyria

Hepatology

Volumn 60, Issue 3, 2014, Pages 1082-1089

  Singal, Ashwani K ^a   Parker, Charles ^b   Bowden, Christine ^c   Thapar, Manish ^d   Liu, Lawrence ^e   Mcguire, Brendan M ^a  

^a University of Alabama at Birmingham   (United States)

^b UNIVERSITY OF UTAH   (United States)

^c University of Alabama at Birmingham   (United States)

^d DREXEL UNIVERSITY   (United States)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PORPHOBILINOGEN SYNTHASE;

ACUTE ABDOMEN; ACUTE INTERMITTENT PORPHYRIA; BONE MARROW TRANSPLANTATION; CONGENITAL ERYTHROPOIETIC PORPHYRIA; DOUBLE BLIND PROCEDURE; ERYTHROPOIETIC PROTOPORPHYRIA; FOLLOW UP; GENETIC SCREENING; HEPATIC PORPHYRIA; HEPATOERYTHROPOIETIC PORPHYRIA; HUMAN; LIVER DISEASE; LIVER TRANSPLANTATION; PHOTOSENSITIVITY; PORPHYRIA; PORPHYRIA CUTANEA TARDA; PORPHYRIA VARIEGATA; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; SKIN DEFECT;

HUMANS; LIVER TRANSPLANTATION; PORPHYRIAS;

EID: 84906794228     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.27086     Document Type: Review

References (59)

1. Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, et al. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet 2008;83:408-414.
2. Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med 2005;142:439-450.
3. Bonkovsky HL. Neurovisceral porphyrias: what a hematologist needs to know. Hematology Am Soc Hematol Educ Program 2005;24-30.
4. Singal AK, Kormos-Hallberg C, Lee C, Sadagoparamanujam VM, Grady JJ, Freeman DH, Jr., et al. Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. Clin Gastroenterol Hepatol 2012;10:1402-1409.
5. Gouya L, Puy H, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y, et al. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood 1999;93:2105-2110.
6. Minder EI, Gouya L, Schneider-Yin X, Deybach JC. A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria. Cell Mol Biol (Noisy-le-grand) 2002;48:91-96.
7. Risheg H, Chen FP, Bloomer JR. Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria. Mol Genet Metab 2003;80:196-206.
8. Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, et al. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Mol Med 2013;19:26-35.
9. Anstey AV, Hift RJ. Liver disease in erythropoietic protoporphyria: insights and implications for management. Gut 2007;56:1009-1018.
10. Lyoumi S, Abitbol M, Rainteau D, Karim Z, Bernex F, Oustric V, et al. Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse model. Gastroenterology 2011;141:1509-1519, 1519.e1-3.
11. Meerman L, Koopen NR, Bloks V, Van Goor H, Havinga R, Wolthers BG, et al. Biliary fibrosis associated with altered bile composition in a mouse model of erythropoietic protoporphyria. Gastroenterology 1999;117:696-705.
12. Lee RG, Avner DL, Berenson MM. Structure-function relationships of protoporphyrin-induced liver injury. Arch Pathol Lab Med 1984;108:744-746.
13. Bloomer J, Bruzzone C, Zhu L, Scarlett Y, Magness S, Brenner D. Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation. J Clin Invest 1998;102:107-114.
14. Sarkany RP, Alexander GJ, Cox TM. Recessive inheritance of erythropoietic protoporphyria with liver failure. Lancet 1994;344:958-959.
15. Chen FP, Risheg H, Liu Y, Bloomer J. Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease. Cell Mol Biol (Noisy-le-grand) 2002;48:83-89.
16. McGuire BM, Bonkovsky HL, Carithers RL, Jr., Chung RT, Goldstein LI, Lake JR, et al. Liver transplantation for erythropoietic protoporphyria liver disease. Liver Transpl 2005;11:1590-1596.
17. Doss MO, Frank M. Hepatobiliary implications and complications in protoporphyria, a 20-year study. Clin Biochem 1989;22:223-229.
18. Bloomer JR, Bonkovsky HL. The porphyrias. Dis Mon 1989;35:1-54.
19. Sarkany RP, Norris PG. Hepatic complications of erythropoietic protoporphyria. Br J Dermatol 1994;130:258-259.
20. Klatskin G, Bloomer JR. Birefringence of hepatic pigment deposits in erythropoietic protoporphyria. Specificity of polarization microscopy in the identification of hepatic protoporphyrin deposits. Gastroenterology 1974;67:294-302.
21. Rademakers LH, Cleton MI, Kooijman C, Baart de la Faille H, van Hattum J. Early involvement of hepatic parenchymal cells in erythrohepatic protoporphyria? An ultrastructural study of patients with and without overt liver disease and the effect of chenodeoxycholic acid treatment. Hepatology 1990;11:449-457.
22. Wells MM, Golitz LE, Bender BJ. Erythropoietic protoporphyria with hepatic cirrhosis. Arch Dermatol 1980;116:429-432.
23. Wahlin S, Stal P, Adam R, Karam V, Porte R, Seehofer D, et al. Liver transplantation for erythropoietic protoporphyria in Europe. Liver Transpl 2011;17:1021-1026.
24. Ozawa K, Uemoto S, Tanaka K, Kumada K, Yamaoka Y, Kobayashi N, et al. An appraisal of pediatric liver transplantation from living relatives. Initial clinical experiences in 20 pediatric liver transplantations from living relatives as donors. Ann Surg 1992;216:547-553.
25. Bloomer JR, Pierach CA. Effect of hematin administration to patients with protoporphyria and liver disease. Hepatology 1982;2:817-821.
26. Reichheld JH, Katz E, Banner BF, Szymanski IO, Saltzman JR, Bonkovsky HL. The value of intravenous heme-albumin and plasmapheresis in reducing postoperative complications of orthotopic liver transplantation for erythropoietic protoporphyria. Transplantation 1999;67:922-928.
27. Pagano MB, Hobbs W, Linenberger M, Delaney M. Plasma and red cell exchange transfusions for erythropoietic protoporphyria: a case report and review of the literature. J Clin Apher 2012;27:336-341.
28. McCullough AJ, Barron D, Mullen KD, Petrelli M, Park MC, Mukhtar H, et al. Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile acid feeding. Gastroenterology 1988;94:177-181.
29. Gross U, Frank M, Doss MO. Hepatic complications of erythropoietic protoporphyria. Photodermatol Photoimmunol Photomed 1998;14:52-57.
30. Eefsen M, Rasmussen A, Wulf HC, Brock A, Hansen BA. Erythropoietic protoporphyria and pretransplantation treatment with nonbiological liver assist devices. Liver Transpl 2007;13:655-657.
31. Wahlin S, Srikanthan N, Hamre B, Harper P, Brun A. Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria. Liver Transpl 2008;14:1340-1346.
32. Rand EB, Bunin N, Cochran W, Ruchelli E, Olthoff KM, Bloomer JR. Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria. Pediatrics 2006;118:e1896-e1899.
33. Akinci E, Erentug V, Bozbuga N, Polat A, Mansuroglu D, Yakut C. Combined valve and coronary surgery in a patient with erythropoietic protoporphyria. J Card Surg 2005;20:267-268.
34. Rank JM, Carithers R, Bloomer J. Evidence for neurological dysfunction in end-stage protoporphyric liver disease. Hepatology 1993;18:1404-1409.
35. Nguyen L, Blust M, Bailin M, Melendez L, Raines DE. Photosensitivity and perioperative polyneuropathy complicating orthotopic liver transplantation in a patient with erythropoietic protoporphyria. Anesthesiology 1999;91:1173-1175.
36. Tokunaga Y, Tanaka K, Uemoto S, Honnda K, Inamoto T, Yamaoka Y. Living-related liver transplantation for inborn errors of metabolism. Transplant Proc 1994;26:2250-2251.
37. Wahlin S, Harper P. The role for BMT in erythropoietic protoporphyria. Bone Marrow Transplant 2010;45:393-394.
38. Smiers FJ, Van de Vijver E, Delsing BJ, Lankester AC, Ball LM, Rings EH, et al. Delayed immune recovery following sequential orthotopic liver transplantation and haploidentical stem cell transplantation in erythropoietic protoporphyria. Pediatr Transplant 2010;14:471-475.
39. Wahlin S, Aschan J, Bjornstedt M, Broome U, Harper P. Curative bone marrow transplantation in erythropoietic protoporphyria after reversal of severe cholestasis. J Hepatol 2007;46:174-179.
40. Frei P, Minder EI, Corti N, Muellhaupt B, Geier A, Adams H, et al. Liver transplantation because of acute liver failure due to heme arginate overdose in a patient with acute intermittent porphyria. Case Rep Gastroenterol 2012;6:190-196.
41. Dhar GJ, Bossenmaier I, Cardinal R, Petryka ZJ, Watson CJ. Transitory renal failure following rapid administration of a relatively large amount of hematin in a patient with acute intermittent porphyria in clinical remission. Acta Med Scand 1978;203:437-443.
42. Bonkowsky HL, Tschudy DP, Collins A, Doherty J, Bossenmaier I, Cardinal R, Watson CJ. Repression of the overproduction of porphyrin precursors in acute intermittent porphyria by intravenous infusions of hematin. Proc Natl Acad Sci U S A 1971;68:2725-2729.
43. Anderson KE, Collins S. Open-label study of hemin for acute porphyria: clinical practice implications. Am J Med 2006;119:801.e19-24.
44. Herrick AL, McColl KE, Moore MR, Cook A, Goldberg A. Controlled trial of haem arginate in acute hepatic porphyria. Lancet 1989;1:1295-1297.
45. Anderson KE, Spitz IM, Bardin CW, Kappas A. A gonadotropin releasing hormone analogue prevents cyclical attacks of porphyria. Arch Intern Med 1990;150:1469-1474.
46. Soonawalla ZF, Orug T, Badminton MN, Elder GH, Rhodes JM, Bramhall SR, et al. Liver transplantation as a cure for acute intermittent porphyria. Lancet 2004;363:705-706.
47. Dowman JK, Gunson BK, Mirza DF, Bramhall SR, Badminton MN, Newsome PN, et al. Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis. Liver Transpl 2012;18:195-200.
48. Seth AK, Badminton MN, Mirza D, Russell S, Elias E. Liver transplantation for porphyria: who, when, and how? Liver Transpl 2007;13:1219-1227.
49. Andersson C, Wikberg A, Stegmayr B, Lithner F. Renal symptomatology in patients with acute intermittent porphyria. A population-based study. J Intern Med 2000;248:319-325.
50. Stewart MF. Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up. J Clin Pathol 2012;65:976-980.
51. Wahlin S, Harper P, Sardh E, Andersson C, Andersson DE, Ericzon BG. Combined liver and kidney transplantation in acute intermittent porphyria. Transpl Int 2010;23:e18-e21.
52. Jean G, Lambertenghi G, Ranzi T. Ultrastructural study of the liver in hepatic prophyria. J Clin Pathol 1968;21:501-507.
53. Singal AK, Anderson KE. Variegate porphyria. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, eds. GeneReviews [Internet]. Seattle, WA: University of Washington; 2013.
54. To-Figueras J, Badenas C, Enriquez MT, Segura S, Alvarez C, Mila M, et al. Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain. Mol Genet Metab 2005;85:160-163.
55. Stojeba N, Meyer C, Jeanpierre C, Perrot F, Hirth C, Pottecher T, et al. Recovery from a variegate porphyria by a liver transplantation. Liver Transpl 2004;10:935-938.
56. Akagi R, Kato N, Inoue R, Anderson KE, Jaffe EK, Sassa S. d-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations. Mol Genet Metab 2006;87:329-336.
57. Thunell S, Henrichson A, Floderus Y, Groth CG, Eriksson BG, Barkholt L, et al. Liver transplantation in a boy with acute porphyria due to aminolaevulinate dehydratase deficiency. Eur J Clin Chem Clin Biochem 1992;30:599-606.
58. Maruno M, Furuyama K, Akagi R, Horie Y, Meguro K, Garbaczewski L, et al. Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria. Blood 2001;97:2972-2978.
59. Innala E, Andersson C. Screening for hepatocellular carcinoma in acute intermittent porphyria: a 15-year follow-up in northern Sweden. J Intern Med 2011;269:538-545.