Amyloid diseases of the heart: Current and future therapies

QJM: An International Journal of Medicine

Volumn 105, Issue 7, 2012, Pages 617-631

  Dubrey, S W ^a   Comenzo, R L ^b  

^a HILLINGDON HOSPITAL   (United Kingdom)

^b TUFTS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; AMYLOID A PROTEIN; AMYLOID P COMPONENT; ANGIOTENSIN RECEPTOR ANTAGONIST; ANTIBIOTIC AGENT; APOLIPOPROTEIN A1; APOLIPOPROTEIN A2; ATRIAL NATRIURETIC FACTOR; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BORTEZOMIB; BRAIN NATRIURETIC PEPTIDE; CYCLOPHOSPHAMIDE; DEXAMETHASONE; DIGOXIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DISEASE MODIFYING ANTIRHEUMATIC DRUG; DIURETIC AGENT; FIBRINOGEN; GELSOLIN; IMMUNOGLOBULIN LIGHT CHAIN; LENALIDOMIDE; MELPHALAN; POMALIDOMIDE; PREALBUMIN; PREDNISOLONE; TAFAMIDIS; THALIDOMIDE; TROPONIN;

ADJUVANT THERAPY; AMYLOIDOSIS; ARTIFICIAL HEART PACEMAKER; ATRIOVENTRICULAR BLOCK; AUTOLOGOUS STEM CELL TRANSPLANTATION; BRADYCARDIA; CARDIOVASCULAR MAGNETIC RESONANCE; CHEMOTHERAPY; CONGESTIVE HEART FAILURE; CREATININE CLEARANCE; DISEASE COURSE; DRUG DOSE REDUCTION; DRUG MEGADOSE; DRUG WITHDRAWAL; ELECTROMYOGRAM; FAMILIAL AMYLOID POLYNEUROPATHY; FAMILIAL AMYLOIDOSIS; GENE MUTATION; GENE THERAPY; GENETIC ASSOCIATION; HEART AMYLOIDOSIS; HEART ARRHYTHMIA; HEART ATRIUM FIBRILLATION; HEART LEFT VENTRICLE HYPERTROPHY; HEART TRANSPLANTATION; HUMAN; HYPOTENSION; IMMUNOMODULATION; INFECTION; KIDNEY TRANSPLANTATION; LIGHT CHAIN AMYLOIDOSIS; LIVER TRANSPLANTATION; LOW DRUG DOSE; MULTICENTER STUDY (TOPIC); NEUROPATHY; PERIPHERAL EDEMA; PERIPHERAL NEUROPATHY; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN BLOOD LEVEL; PROTEIN URINE LEVEL; RESTRICTIVE CARDIOMYOPATHY; REVIEW; SALVAGE THERAPY; SUDDEN DEATH; UNSPECIFIED SIDE EFFECT;

EID: 84863755462     PISSN: 14602725     EISSN: 14602393     Source Type: Journal    
DOI: 10.1093/qjmed/hcr259     Document Type: Review

References (144)

1. Gertz MA, Comenzo R, Falk RH, Fermand JP, Hazenberg BP, Hawkins PN, 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; 79:319-28.
2. Gertz MA, Merlini G. Definition of organ involvement and response to treatment in AL amyloidosis: an updated consensus opinion. Amyloid 2010; 17:48a.
3. Liao R, Jain M, Teller P, Connors LH, Ngoy S, Skinner M, et al. Infusion of light chains from patients with cardiac amyloidosis causes diastolic dysfunction in isolated mouse hearts. Circulation 2001; 104:1594-7.
4. Bucciantini M, Giannoni E, Chiti F, Baroni F, Formigli L, Zurdo J, et al. Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases. Nature 2002; 416:507-11.
5. Kaplan B, Livneh A, Sela BA. Immunoglobulin free light chain dimers in human disease. Scientific World Journal 2011; 11:726-35.
6. Bradwell AR. Serum free light chain measurements move to center stage. Clin Chem 2005; 51:805-7.
7. Lachmann HJ, Gallimore R, Gillmore JD, Carr-Smith HD, Bradwell AR, Pepys MB, et al. Outcome in systemic AL amyloidosis in relation to changes in concentration of circulating free immunoglobulin light chains following chemotherapy. Br J Haematol 2003; 122:78-84.
8. Palladini G, Lavatelli F, Russo P, Perlini S, Perfetti V, Bosoni T, et al. Circulating amyloidogenic free light chains and serum N-terminal natriuretic peptide type B decrease simultaneously in association with improvement of survival in AL. Blood 2006; 107:3854-8.
9. Hawkins PN. Systemic amyloidosis: getting to the heart of the matter. Br J Hosp Med 2010; 71:66-7.
10. Fitzgerald B, Bashford J, Scalia G. The return of the normal heart: cardiac amyloidosis disappears after bone marrow transplantation. Eur Heart J 2011; 32:184.
11. Falk RH, Dubrey SW. Amyloid heart disease. Progress Cardiovasc Dis 2010; 52:347-61.
12. Gertz MA, Falk RH, Skinner M, Cohen AS, Kyle RA. Worsening of congestive heart failure in amyloid heart disease treated by calcium channel-blocking agents. Am J Cardiol 1985; 55:1645.
13. Rubinow A, Skinner M, Cohen AS. Digoxin sensitivity in amyloid cardiomyopathy. Circulation 1981; 63:1285-8.
14. Mathew V, Olson LJ, Gertz MA, Hayes DL. Symptomatic conduction system disease in cardiac amyloidosis. Am J Cardiol 1997; 80:1491-2.
15. Kristen AV, Dengler TJ, Hegenbart U, Schonland SO, Goldschmidt H, Sack FU, et al. Prophylactic implantation of cardioverter-defibrillator in patients with severe cardiac amyloidosis and high risk of sudden cardiac death. Heart Rhythm 2008; 5:235-40.
16. Falk RH. Diagnosis and management of the cardiac amyloidoses. Circulation 2005; 112:2047-60.
17. Lin G, Dispenzieri A, Grogan M, Kyle R, Brady PA. Outcomes of implantable defibrillators in patients with cardiac amyloidosis. Amyloid 2010; 17:166a.
18. Dispenzieri A, Gertz MA, Kyle RA, Lacy MQ, Burritt MF, Therneau TM, et al. Prognostication of survival using cardiac troponins and N-terminal pro-brain natriuretic peptide in patients with primary systemic amyloidosis undergoing peripheral blood stem cell transplantation. Blood 2004; 104:1881-7.
19. Dispenzieri A, Gertz MA, Kyle RA, Lacy MQ, Burritt MF, Therneau TM, et al. Serum cardiac troponins and N-terminal pro-brain natriuretic peptide: a staging system for primary systemic amyloidosis. J Clin Oncol 2004; 22:3751-7.
20. Dispenzieri A, Kyle RA, Gertz MA, Therneau TM, Miller WL, Chandrasekaran K, et al. Survival in patients with primary systemic amyloidosis and raised serum cardiac troponins. Lancet 2003; 361:1787-9.
21. Hosch W, Kristen AV, Libicher M, Dengler TJ, Aulmann S, Heye T, et al. Late enhancement in cardiac amyloidosis: correlation of MRI enhancement pattern with histopathological findings. Amyloid 2008; 15:196-204.
22. Palladini G, Dispenzieri A, Gertz MAA, Wechalekar A, Hawkins PN, Schonland SO, et al. Validation of the criteria of response to treatment in AL amyloidosis. Blood 2010; 116:1364.
23. Comenzo RL. Managing systemic light-chain amyloidosis. J Natl Compr Canc Netw 2007; 5:179-87.
24. Sanchorawala V, Seldin DC, Magnani B, Skinner M, Wright DG. Serum free light-chain responses after high-dose intravenous melphalan and autologous stem cell transplantation for AL (primary) amyloidosis. Bone Marrow Transplant 2005; 36:597-600.
25. Palladini G, Perfetti V, Obici L, Caccialanza R, Semino A, Adami F, et al. Association of melphalan and high-dose dexamethasone is effective and well tolerated in patients with AL (primary) amyloidosis who are ineligible for stem cell transplantation. Blood 2004; 103:2936-8.
26. Palladini G, Russo P, Nuvolone M, Lavatelli F, Perfetti V, Obici L, et al. Treatment with oral melphalan plus dexamethasone produces long-term remissions in AL amyloidosis. Blood 2007; 110:787-8.
27. Jaccard A, Moreau P, Leblond V, Leleu X, Benboubker L, Hermine O, et al. High-dose melphalan versus melphalan plus dexamethasone for AL amyloidosis. N Eng J Med 2007; 357:1083-93.
28. Lebovic D, Hoffman J, Levine BM, Hassoun H, Landau H, Goldsmith Y, et al. Predictors of survival in patients with systemic light-chain amyloidosis and cardiac involvement initially ineligible for stem cell transplantation and treated with oral melphalan and dexamethasone. Br J Haematol 2008; 143:369-73.
29. Skinner M, Sanchorawala V, Seldin DC, Dember LM, Falk RH, Berk JL, et al. High-dose melphalan and autologous stem-cell transplantation in patients with AL amyloidosis: an 8-year study. Ann Int Med 2004; 140:85-93.
30. Gertz MA, Lacy MQ, Dispenzieri A, Hayman SR, Kumar SK, Leung N, et al. Effect of hematologic response on outcome of patients undergoing transplantation for primary amyloidosis: importance of achieving a complete response. Haematologica 2007; 92:1415-8.
31. Cohen AD, Zhou P, Chou J, Teruya-Feldstein J, Reich L, Hassoun H, et al. Risk-adapted autologous stem cell transplantation with adjuvant dexamethasone +/- thalidomide for systemic light-chain amyloidosis: results of a phase II trial. Br J Haem 2007; 139:224-33.
32. Landau H, Hassoun H, Bello C, Hoover E, Jia X, Riedel ER, et al. Adjuvant bortezomib and dexamethasone following risk-adapted melphalan and stem cell transplant in systemic AL amyloidosis. Amyloid 2010; 17:80a.
33. Comenzo RL. How I treat amyloidosis. Blood 2009; 114:3147-57.
34. Sanchorawala V, Finn K, Fennessey S, Shelton A, Dember LM, Zeldis JB, et al. Durable haematologic complete responses can be achieved with lenalidomide in AL amyloidosis. Amyloid 2010; 17:84a.
35. Meier-Ewert HK, Sanchorawala V, Berk J, Finn KT, Skinner M, Seldin DC, et al. Regression of cardiac wall thickness following chemotherapy and stem-cell transplantation for AL amyloidosis. Amyloid 2010; 17:150a.
36. Madan S, Kumar S, Dispenzieri A, Lacy MQ, Hayman S, Buadi F, et al. Outcomes with high-dose therapy (HDT) and peripheral blood (PB) stem cell transplantation for AL amyloidosis with cardiac involvement. Amyloid 2010; 17:182a.
37. Seldin DC, Choufani EB, Dember LM, Wiesman JF, Berk JL, Falk RH, et al. Tolerability and efficacy of thalidomide for the treatment of patients with light chain-associated (AL) amyloidosis. Clin Lymph 2003; 3:241-6.
38. Dispenzieri A, Lacy MQ, Rajkumar SV, Geyer SM, Witzig TE, Fonseca R, et al. Poor tolerance to high doses of thalidomide in patients with primary systemic amyloidosis. Amyloid 2003; 10:257-61.
39. Palladini G, Perfetti V, Perlini S, Obici L, Lavatelli F, Caccialanza R, et al. The combination of thalidomide and intermediate-dose dexamethasone is an effective but toxic treatment for patients with primary amyloidosis (AL). Blood 2005; 105:2949-51.
40. Gibbs SDJ, Gillmore JD, Sattianayagam PT, Offer M, Lachmann HJ, Hawkins PN, et al. In AL amyloidosis, both oral melphalan and dexamethasone (Mel-Dex) and risk-adapted cyclophosphamide, thalidomide and dexamethasone (CTD) have similar efficacy as upfront treatment. Blood 2009; 114:745a.
41. Schechter G. A triple on AL amylidosis, waiting for a home run. Blood 2007; 109:391-2.
42. Sanchorawala V, Finn KT, Fennessey S, Shelton A, Doros G, Zeldis JB, et al. Durable hematologic complete responses can be achieved with lenalidomide in AL amyloidosis. Blood 2010; 116:1990-1.
43. Hegenbart U, Bochtler T, Dietrich S, Ho AD, Schonland S. Treatment of light chain amyloidosis patients with lenalidomide and dexamethasone after failure of melphalan-containing chemotherapies. Amyloid 2010; 17:P-184.
44. Moreau P, Jaccard A, Benboubker L, Royer B, Leleu X, Bridoux F, et al. Lenalidomide in combination with melphalan and dexamethasone in patients with newly diagnosed AL amyloidosis: a multicentre phase 1/2 dose-escalation study. Blood 2010; 116:4777-82.
45. Palladini G, Russo P, Foli A, Milani P, Obici L, Nuvolone M, et al. Salvage therapy with lenalidomide and dexamethasone in patients with advanced AL amyloidosis refractory to melphalan, bortezomib, and thalidomide. Ann Hematol 2011; Apr 30 [doi:10.1007/s00277-011-1244-x; epub ahead of print].
46. Dispenzieri AGM, Hayman SR, Buadi F, Kumar SK, Reeder C, Zeldenrust SR, et al. Pomalidomide and dexamethasone for previously treated AL: a phase 2 study. Amyloid 2010; 17:87a.
47. Tapan U, Seldin DC, Finn KT, Fennessey S, Shelton A, Zeldis JB, et al. Increases in B-type natriuretic peptide (BNP) during treatment with lenalidomide in AL amyloidosis. Blood 2010; 116:5071-2.
48. Dispenzieri A, Dingli D, Kumar SK, Rajkumar SV, Lacy MQ, Hayman S, et al. Discordance between serum cardiac biomarker and immunoglobulin-free light-chain response in patients with immunoglobulin light-chain amyloidosis treatd with immune modulatory drugs. Am J Hematol 2010; 85:757-9.
49. Dubrey SW, Burke MM, Hawkins PN, Banner NR. Cardiac transplantation for amyloid heart disease: the United Kingdom experience. J Heart Lung Transplant 2004; 23:1142-53.
50. Roig E, Almenar L, Gonzalez-Vilchez F, Rabago G, Delgado J, Gomez-Bueno M, et al. Outcomes of heart transplantation for cardiac amyloidosis: subanalysis of the spanish registry for heart transplantation. Am J Transplant 2009; 9:1414-9.
51. Hosenpud JD, DeMarco T, Frazier OH, Griffith BP, Uretsky BF, Menkis AH, et al. Progression of systemic disease and reduced long-term survival in patients with cardiac amyloidosis undergoing heart transplantation. Follow-up results of a multicenter survey. Circulation 1991; 84(Suppl. 5):III338-43.
52. Kpodonu J, Massad MG, Caines A, Geha AS. Outcome of heart transplantation in patients with amyloid cardiomyopathy. J Heart Lung Transplant 2005; 24:1763-5.
53. Gillmore JD, Goodman HJ, Lachmann HJ, Offer M, Wechalekar AD, Joshi J, et al. Sequential heart and autologous stem cell transplantation for systemic AL amyloidosis. Blood 2006; 107:1227-9.
54. Kristen AV, Sack FU, Schonland SO, Hegenbart U, Helmke BM, Koch A, et al. Staged heart transplantation and chemotherapy as a treatment option in patients with severe cardiac light-chain amyloidosis. Eur J Heart Fail 2009; 11:1014-20.
55. Mignot A, Varnous S, Redonnet M, Jaccard A, Epailly E, Vermes E, et al. Heart transplantation in systemic (AL) amyloidosis: a retrospective study of eight French patients. Arch Cardiovasc Dis 2008; 101:523-32.
56. Sack FU, Kristen A, Goldschmidt H, Schnabel PA, Dengler T, Koch A, et al. Treatment options for severe cardiac amyloidosis: heart transplantation combined with chemotherapy and stem cell transplantation for patients with AL-amyloidosis and heart and liver transplantation for patients with ATTR-amyloidosis. Eur J Cardiothorac Surg 2008; 33:257-62.
57. Lacy MQ, Dispenzieri A, Hayman SR, Kumar S, Kyle RA, Rajkumar SV, et al. Autologous stem cell transplant after heart transplant for light chain (Al) amyloid cardiomyopathy. J Heart Lung Transplant 2008; 27:823-9.
58. Maurer MS, Raina A, Hesdorffer C, Bijou R, Colombo P, Deng M, et al. Cardiac transplantation using extended-donor criteria organs for systemic amyloidosis complicated by heart failure. Transplantation 2007; 83:539-45.
59. Mignot A, Bridoux F, Thierry A, Varnous S, Pujo M, Delcourt A, et al. Successful heart transplantation following melphalan plus dexamethasone therapy in systemic AL amyloidosis. Haematologica 2008; 93:e32-5.
60. Satttianayagam PT, Gibbs SD, Pinney JH, Wechalejar AD, Lachmann HJ, Whelan CJ, et al. Solid organ transplantation in AL amyloidosis. Am J Transplant 2010; 10:2124-31.
61. Sanchorawala V, Wright DG, Rosenzweig M, Finn KT, Fennessey S, Zeldis JB, et al. Lenalidomide and dexamethasone in the treatment of AL amyloidosis: results of a phase 2 trial. Blood 2007; 109:492-6.
62. Buadi F, Dispensieri A, Hayman S, Allred J, Laumann K, Roy V, et al. A phase II trial of lenalidomide, cyclophosphamide and dexamethasone (RCD) in patients with primary amyloidosis. Amyloid 2010; 17:P-156.
63. Palladini G, Foli A, Milani P, Russo P, Zenone Bragotti L, Perlini S, et al. Salvage therapy with lenalidomide and dexamethasone (LDex) for patients with advanced refractory AL amyloidosis. Amyloid 2010; 17:P-153.
64. Russo P, Palladini G, Zenone Bragotti L, Musca F, Foli A, Lavatelli F, et al. A phase II trial of cyclophosphamide, lenalidomide and dexamethasone (CLD) in previously treated patients with AL amyloidosis. Amyloid 2010; 17:P-154.
65. Moreau P, Jaccard A, Benboubker L, Royer B, Leleu X, Bridoux F, et al. Lenalidomide in combination with melphalan and dexamethasone in patients with newly diagnosed light-chain (AL) amyloidosis a multicentre phase I/II dose escalation study. Amyloid 2010; 17:OP- 086.
66. Mikhael J, Jiminez-Zepeda VH, Reeder CB, Stewart AK, Bergsagel PL, Fonseca R. Cylcophosphamide-bortezomibdexamethasone (CYBORD) is highly effective in producing rapid and complete responses in patients with AL amyloidosis not eligible for transplantation. Amyloid 2010; 17:P-157.
67. Sanchorawala V, Quillen K, Sloan JM, Andrea NT, Finn KT, Seldin DC. Bortezomib and high dose melphalan with stem cell transplantation for AL amyloidosis: a pilot study. Amyloid 2010; 17:P-183.
68. Palladini G, Russo P, Lavatelli F, Nuvolone M, Albertini R, Bosoni T. Treatment of patients with advanced cardiac AL amyloidosis with oral melphalan, dexamethasone, and lenalidomide. Ann Hematol 2009; 88:347-50.
69. Jaccard A, Abraham J, Debarri H, Penot A, Desport P, Aguilar C, et al. Effectiveness of second line treatment in AL amyloidosis refractory to M-Dex. Amyloid 2010; 17:P189.
70. Richardson PG, Sonneveld P, Schuster MW, Irwin D, Stadtmauer EA, Facon T, et al. Bortezomib or high-dose dexamethasone for relapsed multiple myeloma. N Engl J Med 2005; 352:2487-98.
71. Reece DR, Hegenbart U, Sanchorawala V, Merlini G, Palladini G, Blade J, et al. Efficacy and safety of once-weekly and twice-weekly bortezomib in patients with relapsed systemic AL amyloidosis: results of a phase 1/2 study. Blood 2011; 118:865-73.
72. Kastritis E, Wechalekar AD, Dimopoulos MA, et al. Significant activity of bortezomib-based therapy in patients with primary systemic (AL) amyloidosis. Blood 2008; 112:869.
73. Wechalekar AD, Lachmann HJ, Offer M, Hawkins PN, Gillmore JD. Efficacy of bortezomib in systemic AL amyloidosis with relapsed/refractory clonal disease. Haematologica 2008; 93:295-8.
74. Dubrey SW, Reece DE, Sanchorawala V, Hegenbart U, Merlini G, Palladini G, et al. Bortezomib in a phase 1 trial for patients with relapsed AL amyloidosis: cardiac responses and overall effects. QJM 2011; 104:957-70.
75. Kastritis E, Wechalekar AD, Dimopoulos MA, Merlini G, Hawkins PN, Perfetti V, et al. Bortezomib with or without dexamethasone in primary (light chain) systemic amyloidosis. J Clin Oncol 2010; 28:1031-7.
76. Dimopoulos MA, Rousou M, Pamboukas C, Migkou M, Gavriatopoulou M, Terpos E, et al. Long term follow up of bortezomib with dexamethasone as initial treatment for AL amyloidosis. Amyloid 2010; 17:OP-077.
77. Zonder J, Sanchorawala V, Snyder R, Matous J, Terebelo H, Janakiraman N, et al. Rapid haematologic and organ response in patients with AL amyloid treated with bortezomib plus melphalan and dexamethasone. Amyloid 2010; 17:OP-084.
78. Pepys MB, Herbert J, Hutchinson WL, Tennent GA, Lachmann HJ, Gallimore JR, et al. Targeted pharmacological depletion of serum amyloid P component for treatment of human amyloidosis. Nature 2002; 417:254-9.
79. Hrncic R, Wall J, Wolfenbarger DA, Murphy CL, Schell M, Weiss DT, et al. Antibody mediated resolution of light chain-associated amyloid deposits. Am J Pathol 2000; 157:1239-46.
80. O'Nuallain B, Hrncic R, Wall JS, Weiss DT, Soloman A. Diagnostic and therapeutic potential of amyloid-reactive IgG antibodies contained in human sera. J Immunol 2006; 176:7071-8.
81. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid 2003; 10:160-84.
82. Wilczek HE, Larsson M, Ericzon BG: on behalf of reporting members of the FAPWTR. Amyloid 2010; 17:OP-068.
83. Stangou AJ, Hawkins PN. Liver transplantation in transthyretin-related familial amyloid polyneuropathy. Curr Opin Neurol 2004; 17:615-20.
84. Holmgren G, Ericzon BG, Groth CG, Steen L, Suhr O, Andersen O, et al. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet 1993; 341:1113-6.
85. Bittencourt PL, Couto CA, Farias AQ, Marchiori P, Bosco Massarollo PC, Mies S. Results of liver transplantation for familial amyloid polyneuropathy type I in Brazil. Liver Transpl 2002; 8:34-9.
86. Zeldenrust S, Gertz M, Uemichi T, Bjornsson J, Wiesner R, Schwab T, et al. Orthotopic liver transplantation for hereditary fibrinogen amyloidosis. Transplantation 2003; 75:560-1.
87. Dubrey SW, Davidoff R, Skinner M, Bergethon P, Lewis D, Falk RH. Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation 1997; 64:74-80.
88. Pomfret EA, Lewis WD, Jenkins RL, Bergethon P, Dubrey SW, Reisinger J, et al. Effect of orthotopic liver transplantation on the progression of familial amyloidotic polyneuropathy. Transplantation 1998; 65:918-25.
89. Stangou AJ, Hawkins PN, Heaton ND, Rela M, Monaghan M, Nihoyannopoulos P, et al. Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy: implications for amyloid fibrillogenesis. Transplantation 1998; 66:229-33.
90. Garcia-Herola A, Prieto M, Pascual S, Berenguer M, Lopez-Viedma B, Mir J, 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.
91. Robin J, Meyers S, Nahlawi M, Puthumana J, Lomasney J, Mehlman D, et al. Accelerating restrictive cardiomyopathy after liver transplantation in a patient with familial amyloidotic polyneuropathy: a case report. J Med Case Reports 2008; 2:35.
92. Yazaki M, Tokuda T, Nakamura A, Higashikata T, Koyama J, Higuchi K, et al. Cardiac amyloid in patients with familial amyloid polyneuropathy consists of abundant wild-type transthyretin. Biochem Biophys Res Comms 2000; 274:702-6.
93. Tsuchiya A, Yazaki M, Kametani F, Takei Y, Ikeda S. Marked regression of abdominal fat amyloid in patients with familial amyloid polyneuropathy during long term follow-up after liver transplantation. Liver Transpl 2008; 14:563-70.
94. Liepnieks JJ, Benson MD. Progression of cardiac amyloid deposition in hereditary transthyretin amyloidosis patients after liver transplantation. Amyloid 2007; 14:277-82.
95. Yazaki M, Mitsuhashi S, Tokuda T, Kametani F, Takei YI, Koyama J, et al. Progressive wild-type transthyretin deposition after liver transplantation preferentially occurs onto myocardium in FAP patients. Am J Transplant 2007; 7:235-42.
96. Suhr OB, Ericzon BG, Friman S. Long term follow up of survival of liver transplant recipients with familial amyloid polyneuropathy (Portuguese type). Liver Transpl 2002; 8:787-94.
97. De Carvalho M, Conceicao I, Bentes C, Luis ML. Long term quantitative evaluation of liver transplantation in familial amyloid polyneuropathy (Portuguese V30M). Amyloid 2002; 9:126-33.
98. Singer R, Mehrabi A, Schemmer P, Kashfi A, Hegenbart U, Goldschmidt H, et al. Indications for liver transplantation in patients with amyloidosis: a single-center experience with 11 cases. Transplantation 2005; 80:S156-9.
99. Adams D, Slama M, Samuel D. Liver transplantation for familial amyloid polyneuropathy. Presse Med 2010; 39:17-25.
100. Yamashita T, Ando Y, Okamoto S, Yohei M, Hitahara T, Ueda M, et al. Effect of liver transplantation on the survival of patients with ordinary onset FAP in Japan. Amyloid 2010; 17:P-084.
101. Olofsson BO, Backman C, Karp K, Suhr OB. Progression of cardiomyopathy after liver transplantation in patients with familial amyloidotic polyneuropathy, Portuguese type. Transplantation 2002; 73:745-51.
102. Sharma P, Perri RE, Sirven JE, Zeldenrust SR, Brandhagen DJ, Rosen CB, et al. Outcome of liver transplantation for familial amyloidotic polyneuropathy. Liver Transpl 2003; 9:1273-80.
103. Hornsten R, Wiklund U, Olofsson BO, Jensen SN, Suhr OB. Liver transplantation does not prevent the development of life-threatening arrhythmia in familial amyloidotic polyneuropathy, Portuguese type (ATTR Val30Met) patients. Transplantation 2004; 78:112-6.
104. Sakashita N, Ando Y, Haraoka K, Terazaki H, Yamashita T, Nakamura M, et al. Severe congestive heart failure with cardiac liver cirrhosis 10 years after orthotopic liver transplantation for familial amyloidotic polyneuropathy. Pathol Int 2006; 56:408-12.
105. Okamoto S, Yamashita T, Ando Y, Ueda M, Misumi Y, Obayashi K, et al. Evaluation of myocardial changes in familial amyloid polyneuropathy after liver transplantation. Intern Med 2008; 47:2133-7.
106. Sanda N, Algalarrondo V, Antonini T, Lozeron P, Mariani LL, Lacroix C, et al. The outcome after liver transplantation in ATTR non Met30 familial amyloid polyneuropathy - the French experience. Amyloid 2010; 17:P-093.
107. Okamoto S, Wixner J, Obayashi K, Ando Y, Ericzon BG, Friman S, et al. Liver transplantation for familial amyloidotic polyneuropathy: impact on Swedish patients survival. Liver Transpl 2009; 15:1229-35.
108. Herlenius G, Wilczek HE, Larsson M, Ericzon BG. Familial Amyloidotic Polyneuropathy World transplant registry. Ten years of International experience with liver transplantation for familial amyloidotic polyneuropathy: results from the familial Amyloidotic World Transplant Registry. Transplantation 2004; 77:64-71.
109. Pilato E, Dell'Amore A, Botta L, Arpesella G. Combined heart and liver transplantation for amyloidotic neuropathy. Eur J Cardiothorac Surg 2007; 32:180-2.
110. Barreiros AP, Post F, Hoppe-Lotichius M, Linke RP, Vahl CF, Schafers HJ, 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.
111. Arpesella G, Chiappini B, Marinelli G, Mikus PM, Dozza F, Pierangeli A, et al. Combined heart and liver transplantation for familial amyloidotic polyneuropathy. J Thorac Cardiovasc Surg 2003; 125:1165-6.
112. Grazi GL, Cescon M, Salvi F, Ercolani G, Ravaioli M, Arpesella G, et al. Combined heart and liver transplantation for familial amyloidotic neuropathy: considerations from the hepatic point of view. Liver Transpl 2003; 9:986-92.
113. Hashikura Y, Ikegami T, Nakazawa Y, Urata K, Mihara M, Mita A, et al. Domino liver transplantation in living donors. Transplant Proc 2005; 37:1076-8.
114. Stangou AJ, Heaton ND, Hawkins PN. Transmission of systemic transthyretin amyloidosis by means of domino liver transplantation. N Engl J Med 2005; 352:2356.
115. Ratner M. Spotlight focuses on protein-misfolding therapies. Nature Biotechnol 2009; 27:874.
116. Coelho T, Maia L, Martins da Silva A, Waddingtion-Cruz M, Plante-Bordeneuve V, Lozeron P, et al. Tafamidis (Fx-1006A): a first-in-class disease-modifying therapy fr transthyretin familial amyloid. Amyloid 2010; 17:OP-066.
117. Miller SR, Sekijima Y, Kelly JW. Native state stabilization by NSAIDs inhibits transthyretin amyloidogenesis from the most common familial disease variants. Lab Invest 2004; 84:545-52.
118. Sekijima Y, Dendle MA, Kelly JW. Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis. Amyloid 2006; 13:236-49.
119. Oza VB, Smith C, Raman P, Koepf EK, Lashuel HA, Petrassi HM, et al. Synthesis, structure, and activity of diclofenac analogues as transthyretin amyloid fibril formation inhibitors. J Med Chem 2002; 45:321-32.
120. Benson MD, Pandey S, Witchell D, Jazayeri A, Siwkowski A, Monia B, et al. Antisense oligonucleotide therapy for TTR amyloidosis. Amyloid 2010; 17:OP-028.
121. Sekijima Y, Kelly JW, Ikeda S. pathogenesis of and therapeutic strategies to ameliorate the transthyretin amyloidoses. Curr Pharm Des 2008; 14:3219-30.
122. Gillmore JD, Lachmann HJ, Rowczenio D, Gilbertson JA, Zeng C-H, Liu Z-H. Diagnosis, pathogenesis, treatment and prognosis of hereditary fibrinogen Aa-chain amyloidosis. J Am Soc Nephrol 2009; 20:444-51.
123. Stangou AJ, Lobato L, Zeldenrust S, Portmann B, Linke R, Otto G, et al. Report and recommendations from the 1st International Workshop on Hereditary Renal Amyloidosis, FAP Symposium, London 2010. Amyloid 2010; 17:P-073.
124. Tennent GA, Brennan SO, Stangou AJ, O'Grady J, Hawkins PN, Pepys MB. Human plasma fibrinogen is synthesized in the liver. Blood 2007; 109:1971-4.
125. Zeldenrust S, Gertz M, Uemichi T, Bjornsson J, Wiesner R, Schwab T, et al. Orthotopic liver transplantation for hereditary fibrinogen amyloidosis. Transplantation 2003; 75:560-1.
126. Gillmore JD, Booth DR, Rela M, Heaton ND, Rahman V, Stangou AJ, et al. Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen α-chain variant in an English family. Q J Med 2000; 93:269-75.
127. Stangou AJ, Banner NR, Hendry BM, Rela M, Portmann B, Wendon J, et al. Hereditary fibrinogen A alpha-chain amyloidosis: phenotypic characterization of a systemic disease and role of liver transplantation. Blood 2010; 115:2998-3007.
128. Dember LM, Gillmore JD, Lewis WD, Pasquali S, Schoenland SO, Semigran SJ, et al. Solid organ transplantation for non-TTR amyloidoses: consensus opinion. Amyloid 2010; 17:CP-C.
129. Rowczenio D, Dogan A, Theis JD, Vrana JA, Lachmann HJ, Wechalekar AD, et al. Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein a-I. Am J Pathol 2011; 179:1978-87.
130. Gillmore JD, Stangou AJ, Tennent GA, Booth DR, O'Grady J, Rela M, et al. Clinical and biochemical outcome of hepatorenal transplantation for hereditary systemic amyloidosis associated with apolipoprotein AI Gly26Arg. Transplantation 2001; 71:986-92.
131. Testro AG, Brennan SO, Macdonell RA, Hawkins PN, Angus PW. Hereditary amyloidosis with progressive peripheral neuropathy associated with apolipoprotein AI Gly26Arg: outcome of hepatorenal transplantation. Liver Transpl 2007; 13:1028-31.
132. Delabre JP, Pageaux GP, Le Quellec A, Raynaud P, Grateau G, Mourad G. A pre-emptive combined liver-kidney transplantation in A alpha fibrinogen chain renal amyloidosis. Nephrol Ther 2009; 5:139-43.
133. Gillmore JD, Stangou AJ, Lachmann HJ, Goodman HJ, Wechalekar AD, Acheson J, et al. Organ transplantation in hereditary apolipoprotein AI amyloidosis. Am J Transplant 2006; 6:2342-7.
134. Shaz BH, Lewis WD, Skinner M, Khettry U. Livers from patients with apolipoprotein A-I amyloidosis are not suitable as "domino" donors. Mod Pathol 2001; 14:577-80.
135. Ishii W, Kluve-Beckerman B, Liepnieks JJ, Vakili ST, Benson MD. Rapidly progressive AA cardiomyopathy. Amyloid 2010; 17:P-060.
136. Dubrey S, Cha K, Simms RW, Skinner M, Falk RH. Echocardiographic and electrocardiographic features of cardiac involvement in secondary (AA) amyloidosis. Am J Cardiol 1996; 77:313-5.
137. Lachmann HJ, Goodman HJ, Gilberston JA, Gallimore JR, Sabin CA, Gillmore JD, et al. Natural history and outcome in systemic AA amyloidosis. N Engl J Med 2007; 356:2361-71.
138. Gillmore JD, Lovat LB, Persey MR, Pepys MB, Hawkins PN. Amyloid load and clinical outcome in AA amyloidosis in relation to circulating concentration of serum amyloid A protein. Lancet 2001; 358:24-9.
139. Hodgson-Zingman DM, Karst ML, Zingman LV, Heublein DM, Darbar D, Herron KJ, et al. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. N Eng J Med 2008; 359:158-65.
140. Roberts JD, Davies RW, Lubitz SA, Thibodeau IL, Nery PB, Birnie DH, et al. Evaluation of non-synonymous NPPA single nucleotide polymorphisms in atrial fibrillation. Europace 2010; 12:1078-83.
141. Seino Y, Shimai S, Ibuki C, Itoh K, Takano T, Hayakawa H. Disturbed secretion of atrial natriuretic peptide in patients with persistent atrial standstill: endocrinologic silence. J Am Coll Cardiol 1991; 18:459-63.
142. Kawamura S, Takahashi M, Ishihara T, Uchino F. Incidence and distribution of isolated atrial amyloid: histologic and immunohistochemical studies of 100 aging hearts. Pathol Int 1995; 45:335-42.
143. Bodin K, Ellmerich S, Kahan MC, Tennent GA, Loesch A, Gilbertson JA, et al. Antibodies to human serum amyloid P component eliminate visceral amyloid deposits. Nature 2010; 468:93-7.
144. Johnson SM, Wiseman RL, Sekijima Y, Green NS, Adamski-Werner SL, Kelly JW. Native state kinetic stabilization as a strategy to ameliorate protein misfolding diseases:A focus on the transthyretin amyloidosis. Acc Chem Res 2005; 38:911-21.