Survival after Transplantation in Patients with Mutations Other Than Val30Met: Extracts from the FAP World Transplant Registry

Transplantation

Volumn 100, Issue 2, 2016, Pages 373-381

  Suhr, Ole B ^a   Larsson, Marie ^b   Ericzon, Bo Göran ^b   Wilczek, Henryk E ^b  

^a UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; AMINO ACID SUBSTITUTION; AMYLOIDOSIS; ARTICLE; BODY MASS; CARDIOVASCULAR MORTALITY; CLINICAL EFFECTIVENESS; CLINICAL EVALUATION; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE REGISTRY; FEMALE; FOLLOW UP; GENETIC ASSOCIATION; HEART TRANSPLANTATION; HEREDITARY TRANSTHYRETIN AMYLOIDOSIS; HUMAN; KIDNEY TRANSPLANTATION; LIVER TRANSPLANTATION; LIVING DONOR; LONG TERM SURVIVAL; MAJOR CLINICAL STUDY; MALE; MORTALITY; MUTATIONAL ANALYSIS; NUTRITIONAL STATUS; OUTCOME ASSESSMENT; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SEX DIFFERENCE; SURVIVAL RATE; SURVIVAL TIME; ADVERSE EFFECTS; AMYLOID NEUROPATHIES, FAMILIAL; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION; GENETICS; KAPLAN MEIER METHOD; MIDDLE AGED; MUTATION; REGISTER; RISK FACTOR; TIME FACTOR; TREATMENT OUTCOME; YOUNG ADULT;

PREALBUMIN;

ADULT; AGED; AMYLOID NEUROPATHIES, FAMILIAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KAPLAN-MEIER ESTIMATE; LIVER TRANSPLANTATION; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PREALBUMIN; REGISTRIES; RISK FACTORS; TIME FACTORS; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84957433830     PISSN: 00411337     EISSN: None     Source Type: Journal    
DOI: 10.1097/TP.0000000000001021     Document Type: Article

References (62)

1. Coelho T, Sousa A, Lourenço E, et al. A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J Med Genet. 1994;31:293-9.
2. Rapezzi C, Quarta CC, Obici L, et al. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J. 2013;34:520-8.
3. Zeldenrust SR. Genotype-phenotype correlation in FAP. Amyloid. 2012;19 (Suppl 1): 22-4.
4. Sattianayagam PT, Hahn AF, Whelan CJ, et al. Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. Eur Heart J. 2012;33:1120-7.
5. Arruda-Olson AM, Zeldenrust SR, Dispenzieri A, et al. Genotype, echocardiography, and survival in familial transthyretin amyloidosis. Amyloid. 2013; 20:263-8.
6. Rapezzi C,Merlini G, Quarta CC, et al. Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation. 2009; 120:1203-12.
7. Rapezzi C, Perugini E, Salvi F, et al. Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies Amyloid. 2006;13:143-53.
8. Suhr O, Danielsson A, Holmgren G, et al. Malnutrition and gastrointestinal dysfunction as prognostic factors for survival in familial amyloidotic polyneuropathy. J Intern Med. 1994;235:479-85.
9. Hattori T, Takei Y, Koyama J, et al. Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. Amyloid. 2003;10:229-39.
10. Ruberg FL, Maurer MS, Judge DP, et al. Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). Am Heart J. 2012;164:222-228.
11. Kelly JW, ColonW, Lai Z, et al. Transthyretin quaternary and tertiary structural changes facilitate misassembly into amyloid. Adv Protein Chem. 1997;50:161-81.
12. Westermark P, Sletten K, Johansson B, et al. Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc Natl Acad Sci USA. 1990;87:2843-5.
13. Holmgren G, Ericzon BG, Groth CG, et al. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet. 1993;341:1113-6.
14. Dubrey SW, Davidoff R, Skinner M, et al. Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation. 1997;64:74-80.
15. Garciá-Herola A, Prieto M, Pascual S, et al. Progression of cardiomyopathy and neuropathy after liver transplantation in a patient with familial amyloidotic polyneuropathy caused by tyrosine-77 transthyretin variant. Liver Transpl Surg. 1999;5:246-8.
16. Stangou AJ, Hawkins PN, Heaton ND, et al. Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy: implications for amyloid fibrillogenesis. Transplantation. 1998;66:229-33.
17. Okamoto S, Zhao Y, Lindqvist P, et al. Development of cardiomyopathy after liver transplantation in Swedish hereditary transthyretin amyloidosis (ATTR) patients. Amyloid. 2011;18:200-5.
18. Olofsson BO, Backman C, Karp K, et al. Progression of cardiomyopathy after liver transplantation in patients with familial amyloidotic polyneuropathy, Portuguese type. Transplantation. 2002;73:745-51.
19. Nelson LM, Penninga L, Sander K, et al. Long-term outcome in patients treated with combined heart and liver transplantation for familial amyloidotic cardiomyopathy. Clin Transplant. 2013;27:203-9.
20. Pilato E, Dell'Amore A, Botta L, et al. Combined heart and liver transplantation for familial amyloidotic neuropathy. Eur J Cardiothorac Surg. 2007; 32:180-2.
21. Barreiros AP, Post F, Hoppe-Lotichius M, et al. Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience. Liver Transpl. 2010;16:314-23.
22. Gibbs SD, Sattianayagam PT, Hawkins PN, et al. Cardiac transplantation should be considered in selected patients with either AL or hereditary forms of amyloidosis: the UK National Amyloidosis Centre experience. Intern Med J. 2009;39:786-7.
23. Adams D, Samuel D, Goulon-Goeau C, et al. The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain. 2000;123(Pt 7): 1495-504.
24. Bittencourt PL, Couto CA, Farias AQ, et al. Results of liver transplantation for familial amyloid polyneuropathy type I in Brazil. Liver Transpl. 2002;8: 34-9.
25. Herlenius G, Wilczek HE, LarssonM, et al. Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the Familial Amyloidotic Polyneuropathy World Transplant Registry. Transplantation. 2004;77:64-71.
26. Okamoto S, Wixner J, Obayashi K, et al. Liver transplantation for familial amyloidotic polyneuropathy: impact on Swedish patients' survival. Liver Transpl. 2009;15:1229-35.
27. Ericzon BG, Wilczek HE, Larsson M, et al. Liver transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative Transplantation. 2015;99:1847-54.
28. De Carolis P, Galeotti M, Ficarra G, et al. Fatal cerebral haemorrhage after liver transplantation in a patient with transthyretin variant (gly53glu) amyloidosis. Neurol Sci. 2006;27:352-4.
29. Lauro A, Diago Usò T, MasettiM, et al. Liver transplantation for familial amyloid polyneuropathy non-VAL30MET variants: are cardiac complications influenced by prophylactic pacing and immunosuppressive weaning Transplant Proc. 2005;37:2214-20.
30. Yamashita T, Ando Y, Ueda M, et al. Effect of liver transplantation on transthyretin Tyr114Cys-related cerebral amyloid angiopathy. Neurology. 2008;70:123-8.
31. Sharma P, Perri RE, Sirven JE, et al. Outcome of liver transplantation for familial amyloidotic polyneuropathy. Liver Transpl. 2003;9:1273-80.
32. Muller KR, Padbury R, Jeffrey GP, et al. Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report. Liver Transpl. 2010;16:470-3.
33. Roig E, Almenar L, González-Vílchez F, et al. Outcomes of heart transplantation for cardiac amyloidosis: subanalysis of the spanish registry for heart transplantation. Am J Transplant. 2009;9:1414-9.
34. Raichlin E, Daly RC, Rosen CB, et al. Combined heart and liver transplantation: a single-center experience. Transplantation. 2009;88:219.
35. Berk JL, Suhr OB, Obici L, et al. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA. 2013;310:2658-67.
36. Coelho T, Maia LF, Martins da Silva A, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology. 2012;79:785-92.
37. Hammarström P, Wiseman RL, Powers ET, et al. Prevention of transthyretin amyloid disease by changing protein misfolding energetics. Science. 2003;299:713-6.
38. Coelho T,Maia LF, da Silva AM, et al. Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy. J Neurol. 2013; 260:2802-14.
39. Ackermann EJ, Guo S, Booten S, et al. Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy. Amyloid. 2012;19(Suppl 1): 43-4.
40. Coelho T, Adams D, Silva A, et al. Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl JMed. 2013;369:819-29.
41. Ihse E, Suhr OB, Hellman U, et al. Variation in amount of wild-type transthyretin in different fibril and tissue types in ATTR amyloidosis. J Mol Med (Berl). 2011;89:171-80.
42. Liepnieks JJ, Benson MD. Progression of cardiac amyloid deposition in hereditary transthyretin amyloidosis patients after liver transplantation. Amyloid. 2007;14:277-82.
43. Coelho T, Suhr O, Conceicao I, et al. Phase 2 open-label extension study of patisiran, an investigational RNAi therapeutic for the treatment of familial amyloid polyneuropathy (Abstract). Neurology. 2015;84:S9-003.
44. Suhr OB, Friman S, Ericzon BG. Early liver transplantation improves familial amyloidotic polyneuropathy patients' survival. Amyloid. 2005;12:233-8.
45. Yamamoto S,Wilczek HE, Nowak G, et al. Liver transplantation for familial amyloidotic polyneuropathy (FAP): a single-center experience over 16 years. Am J Transplant. 2007;7:2597-604.
46. Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007;36:411-23.
47. Connors LH, Lim A, Prokaeva T, et al. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid. 2003;10:160-84.
48. Saraiva MJ. Database on transthyretin mutations. 2001 [cited 2015 July 4]; Available from: http://www.ibmc.up.pt/mjsaraiva/ttrmut.html.
49. Rowczenio D, Wechalekar A. Mutations in Hereditary Amyloidosis. 2010 [cited 2015 July 05]; Available from: http://amyloidosismutations.com/attr.html.
50. Hörnsten R, Pennlert J, Wiklund U, et al. Heart complications in familial transthyretin amyloidosis: impact of age and gender. Amyloid. 2010;17: 63-8.
51. Rapezzi C, Riva L, Quarta CC, et al. Gender-related risk of myocardial involvement in systemic amyloidosis. Amyloid. 2008;15:40-8.
52. Coelho T, Maurer MS, Suhr OB. THAOS-the Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. Curr Med Res Opin. 2013;29:63-76.
53. Takahashi N, Ueno S, Uemichi T, et al. Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. J Neurol Sci. 1992; 112:58-64.
54. Svendsen IH, Steensgaard-Hansen F, Nordvåg BY. A clinical, echocardiographic and genetic characterization of a Danish kindred with familial amyloid transthyretin methionine 111 linked cardiomyopathy. Eur Heart J. 1998;19:782-9.
55. Nelson LM, Penninga L, Villadsen GE, et al. Outcome in patients treated with isolated liver transplantation for familial transthyretin amyloidosis to prevent cardiomyopathy. Clin Transplant. 2015.
56. Ueno S, Fujimura H, Yorifuji S, et al. Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred. Brain. 1992;115(Pt 5): 1275-89.
57. Gustafsson S, Ihse E, Henein MY, et al. Amyloid Fibril Composition as a Predictor of Development of Cardiomyopathy After Liver Transplantation for Hereditary Transthyretin Amyloidosis. Transplantation. 2012;93:1017-23.
58. Ihse E, Ybo A, Suhr O, et al. Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. J Pathol. 2008; 216:253-61.
59. Ihse E, Rapezzi C, Merlini G, et al. Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. Amyloid. 2013;20:142-50.
60. Takei Y, Ikeda S, Ikegami T, et al. Ten years of experience with liver transplantation for familial amyloid polyneuropathy in Japan: outcomes of living donor liver transplantations. Intern Med. 2005;44:1151-6.
61. Bispo M, Marcelino P, Freire A, et al. High incidence of thrombotic complications early after liver transplantation for familial amyloidotic polyneuropathy. Transpl Int. 2009;22:165-71.
62. Yoshinaga T, Yazaki M, Sekijima Y, et al. Regression of gastroduodenal mucosal amyloid deposits in FAP patients after combined therapy with oral intake of diflunisal followed by liver transplantation. In: Benson M, ed. XIVth International Symposium on Amyloidosis. USA: Indianapolis; 2014:266.