Hereditary fibrinogen a α-chain amyloidosis: Phenotypic characterization of a systemic disease and the role of liver transplantation

Blood

Volumn 115, Issue 15, 2010, Pages 2998-3007

  Stangou, Arie J ^a   Banner, Nicholas R ^b,c   Hendry, Bruce M ^d   Rela, Mohamed ^a   Portmann, Bernard ^a   Wendon, Julia ^a   Monaghan, Mark ^a   MacCarthy, Philip ^a   Buxton Thomas, Muriel ^a   Mathias, Christopher J ^e,f   Liepnieks, Juris J ^g   O'Grady, John ^a   Heaton, Nigel D ^a   Benson, Merrill D ^g  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

^b ROYAL BROMPTON AND HAREFIELD NHS FOUNDATION TRUST   (United Kingdom)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^f ST MARY S HOSPITAL   (United Kingdom)

^g INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN; SUCCIMER TC 99M;

ADULT; AGED; ALLOGRAFT; ARTICLE; ATHEROMA; ATHEROMATOSIS; BRADYCARDIA; CLINICAL ARTICLE; CLINICAL FEATURE; CORONARY ARTERY ATHEROSCLEROSIS; DISEASE COURSE; ENDARTERECTOMY; FAMILIAL AMYLOIDOSIS; FEMALE; FOLLOW UP; HEART MUSCLE BIOPSY; HEMODIALYSIS; HUMAN; HUMAN TISSUE; KIDNEY DISEASE; KIDNEY FUNCTION; KIDNEY TRANSPLANTATION; LIVER TRANSPLANTATION; MALE; NEUROPATHY; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; SCINTIGRAPHY; SURVIVAL; SYSTEMIC DISEASE;

EID: 77951054206     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2009-06-223792     Document Type: Article

References (40)

1. Pepys MB. Amyloidosis. Annu Rev Med. 2006;57:223-241.
2. Ostertag B. Demonstration einer eigenartigen familiaren paraamyloidose. Zentralbl Aug Pathol. 1932;56:253-254.
3. Pepys MB, Hawkins PN, Booth DR, et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature. 1993;362(6420):553-557.
4. Nichols WC, Dwulet FE, Liepnieks J, Benson MD. Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. Biochem Biophys Res Commun. 1988;156(2):762-768. (Pubitemid 18263896)
5. Obici L, Palladini G, Giorgetti S, et al. Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. Gastroenterology. 2004;126(5):1416-1422. (Pubitemid 38552805)
6. Benson MD, Liepnieks JJ, Yazaki M, et al. A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. Genomics. 2001;72(3):272-277. (Pubitemid 32281528)
7. Yazaki M, Liepnieks JJ, Yamashita T, Guenther B, Skinner M, Benson MD. Renal amyloidosis caused by a novel stop-codon mutation in the apolipoprotein A-II gene. Kidney Int. 2001;60(5):1658-1665. (Pubitemid 32999969)
8. Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. Nat Genet. 1993;3(3):252-255. (Pubitemid 23096562)
9. Uemichi T, Liepnieks JJ, Benson MD. Hereditary renal amyloidosis with a novel variant fibrinogen. J Clin Invest. 1994;93(2):731-736. (Pubitemid 24072816)
10. Uemichi T, Liepnieks JJ, Yamada T, Gertz MA, Bang N, Benson MD. A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis. Blood. 1996;87(10):4197-4203. (Pubitemid 26152264)
11. Hamidi Asl L, Liepnieks JJ, Uemichi T, et al. Renal amyloidosis with a frame shift mutation in fibrinogen a alpha-chain gene producing a novel amyloid protein. Blood. 1997;90(12):4799-4805. (Pubitemid 28007193)
12. Benson MD. Ostertag revisited: the inherited systemic amyloidoses without neuropathy. Amyloid. 2005;12(2):75-87.
13. Lachmann HJ, Booth DR, Booth SE, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. 2002;346(23):1786-1791.
14. Eriksson M, Schönland S, Bergner R, et al. Three German fibrinogen Aalpha-chain amyloidosis patients with the p.Glu526Val mutation. Virchows Arch. 2008;453(1):25-31.
15. Uemichi T, Liepnieks JJ, Alexander F, Benson MD. The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds. QJM. 1996;89(10):745-750. (Pubitemid 26345114)
16. Uemichi T, Liepnieks JJ, Gertz MA, Benson MD. Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal amyloidosis. Amyloid. 1998;5(3):188-192. (Pubitemid 128699446)
17. Hawkins PN. Studies with radiolabelled serum amyloid P component provide evidence for turn-over and regression of amyloid deposits in vivo. Clin Sci (Lond). 1994;87(3):289-295.
18. Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med. 2003;349(6):583-596.
19. Tennent GA, Brennan SO, Stangou AJ, O'Grady J, Hawkins PN, Pepys MB. Human plasma fibrinogen is synthesized in the liver. Blood. 2007;109(5):1971- 1974. (Pubitemid 46348194)
20. Zeldenrust S, Gertz M, Uemichi T, et al. Orthotopic liver transplantation for hereditary fibrinogen amyloidosis. Transplantation. 2003;75(4)560-561. (Pubitemid 36241157)
21. Mousson C, Heyd B, Justrabo E, et al. Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen A alpha-chain gene. Am J Transplant. 2006;6(3):632-635. (Pubitemid 43382153)
22. Gillmore JD, Lachmann HJ, Rowczenio D, et al. Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A{alpha}-chain amyloidosis. J Am Soc Nephrol. 2009;20(2):444-451.
23. Heaton ND, O'Grady J, Rela M, et al. Hereditary fibrinogen A a-chain amyloidosis: clinical features and the curative role of liver transplantation. In: XIth International Symposium on Amyloidosis. Skinner M, Berk JL, Connors LH, Seldin DC, eds. New York, NY: CRC, Taylor & Francis; 2006:141-142.
24. Cecka JM. The OPTN/UNOS renal transplant registry. Clin Transpl. 2005:1-16.
25. NHS Blood and Transplant. Transplant activity in the UK 2007-2008. UK Transplant August 2008. http://www.uktransplant.org.uk. Accessed March 31, 2009.
26. Gillmore JD, Booth DR, Rela M, et al. Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family. QJM. 2000;93(5):269-275. (Pubitemid 30261377)
27. Benson MD, James S, Scott K, Liepnieks JJ, Kluve-Beckerman B. Leukocyte chemotactic factor 2: a novel renal amyloid protein. Kidney Int. 2008;74(2):218-222. (Pubitemid 351915083)
28. Gertz MA, Comenzo R, Falk RH, et al. Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): a consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis, Tours, France, 18-22 April 2004. Am J Hematol. 2005;79(4):319-328.
29. Hayes DL. Evolving indications for permanent pacing. Am J Cardiol. 1999;11;83(5B):161D-165D.
30. Matsuda M, Sugo T. Hereditary disorders of fibrinogen. Ann N Y Acad Sci. 2001;936:65-88.
31. Kang HG, Bybee A, Ha IS, et al. Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen Aalpha chain gene. Kidney Int. 2005;68(5):1994-1998. (Pubitemid 43117774)
32. Mourad G, Delabre JP, Garrigue V. Cardiac amyloidosis with the E526V mutation of the fibrinogen A alpha-chain. N Engl J Med. 2008;359(26):2847-2848.
33. Sarnak MJ, Levey AS, Schoolwerth AC, et al. American Heart Association Councils on Kidney in Cardiovascular Disease, High Blood Pressure Research, Clinical Cardiology, and Epidemiology and Prevention: kidney disease as a risk factor for development of cardiovascular disease: a statement from the American Heart Association Councils on Kidney in Cardiovascular Disease, High Blood Pressure Research, Clinical Cardiology, and Epidemiology and Prevention. Hypertension. 2003;42:1050-1065.
34. Westermark P, Mucchiano G, Marthin T, Johnson KH, Sletten K. Apolipoprotein A1-derived amyloid in human aortic atherosclerotic plaques. Am J Pathol. 1995;147(5):1186-1192.
35. Caraba A, Romoçsan I. Endothelial dysfunction in the nephrotic syndrome. Med Pregl. 2007; 60(suppl 2):66-69.
36. Wheeler DC, Bernard DB. Lipid abnormalities in the nephrotic syndrome: causes, consequences, and treatment. Am J Kidney Dis. 1994;23(3):331-346.
37. de Carvalho M, Linke RP, Domingos F, et al. Mutant fibrinogen A-alpha-chain associated with hereditary renal amyloidosis and peripheral neuropathy. Amyloid. 2004;11(3):200-207. (Pubitemid 39315136)
38. Rela M, Muiesan P, Heaton ND, et al. Orthotopic liver transplantation for hepatic-based metabolic disorders. Transpl Int. 1995;8(1):41-44. (Pubitemid 24365546)
39. Stangou AJ, Hawkins PN. Liver transplantation in transthyretin-related familial amyloid polyneuropathy. Curr Opin Neurol. 2004;17(5):615-620. (Pubitemid 39410878)
40. Meier-Kriesche HU, Schold JD, Srinivas TR, Reed A, Kaplan B. Kidney transplantation halts cardiovascular disease progression in patients with end-stage renal disease. Am J Transplant. 2004;4(10):1662-1668. (Pubitemid 39312301)