First european consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy

Current Opinion in Neurology

Volumn 29, Issue , 2016, Pages S14-S26

  Adams, David ^a   Suhr, Ole B ^b   Hund, Ernst ^c   Obici, Laura ^d   Tournev, Ivailo ^e,f   Campistol, Josep M ^g   Slama, Michel S ^h   Hazenberg, Bouke P ⁱ   Coelho, Teresa ^j  

^a BICÊTRE HOSPITAL   (France)

^b UMEÅ UNIVERSITY   (Sweden)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^e MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^f NEW BULGARIAN UNIVERSITY   (Bulgaria)

^g Clínic Barcelona   (Spain)

^h HÔPITAL ANTOINE BÉCLÈRE   (France)

ⁱ UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^j HOSPITAL DE SANTO ANTÓNIO   (Portugal)

more..

Author keywords

Algorithm; Diagnosis; Europe; FAP; Management; TTR

Indexed keywords

AMYLOID NEUROPATHIES, FAMILIAL; CONSENSUS; DISEASE MANAGEMENT; EARLY DIAGNOSIS; EUROPE; HUMAN;

AMYLOID NEUROPATHIES, FAMILIAL; CONSENSUS; DISEASE MANAGEMENT; EARLY DIAGNOSIS; EUROPE; HUMANS;

EID: 84983504570     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0000000000000289     Document Type: Article

References (77)

1. Adams D, Lozeron P, Lacroix C. Amyloid neuropathies. Curr Opin Neurol & 2012; 25:564-572. A recent and comprehensive review on the diagnosis and management of amyloid neuropathy.
2. Dohrn MF, Rocken C, De Bleecker JL, et al. Diagnostic hallmarks and pitfalls in & late-onset progressive transthyretin-related amyloid-neuropathy. J Neurol 2013; 260:3093-3108. A recent article illustrating the late diagnosis of TTR FAP in Germany.
3. Coutinho P, da Silva AM, Lima JL, et al. Forty years of experience with type 1 amyloid neuropathy: review of 483 cases. In: Glenner GG, e Costa PP, de Freitas AF, editors. Amyloid and Amyloidosis. Amsterdam: Excerpta Medica; 1980. pp. 88-98.
4. Hou X, Aguilar MI, Small DH. Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. FEBS J 2007; 274:1637-1650.
5. Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007; 36:411-423.
6. Adams D, Cauquil C, Theaudin M, et al. Current and future treatment of amyloid neuropathies. Expert Rev Neurother 2014; 14:1437-1451.
7. Koike H, Tanaka F, Hashimoto R, et al. Natural history of transthyretin && Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from nonendemic areas. J Neurol Neurosurg Psychiatry 2012; 83:152-158. This paper described the major clinical landmarks and abnormalities of nerve conduction and cardiac-related indices that can be accurately assessed in patients with late-onset TTR-FAP in nonendemic areas.
8. Dardiotis E, Koutsou P, Papanicolaou EZ, et al. Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus. Amyloid 2009; 16:32-37.
9. Ueda M, Ando Y. Recent advances in transthyretin amyloidosis therapy. Transl Neurodegener 2014; 3:19.
10. Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis 2013; 8:31.
11. Parman Y, Adams D, Obici L, et al. Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP. Curr Opin Neurol 2015. (In press).
12. Cappellari M, Cavallaro T, Ferrarini M, et al. Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. J Peripher Nerv Syst 2011; 16:119-129.
13. Koike H, Hashimoto R, Tomita M, et al. Diagnosis of sporadic transthyretin & Val30Met familial amyloid polyneuropathy: a practical analysis. Amyloid 2011; 18:53-62. This paper focuses on the difficulties of diagnosing sporadic cases of TTR-FAP and the importance of using nerve biopsy to identify the amyloid deposit.
14. Plante-Bordeneuve V, Ferreira A, Lalu T, et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 2007; 69:693-698.
15. Adams D, Lozeron P, Theaudin M, et al. Regional difference and similarity of & familial amyloidosis with polyneuropathy in France. Amyloid 2012; 19:61-64. This study examined the genotype and geographic distribution of various types of FAP patients in France.
16. van Gameren II, Hazenberg BP, Bijzet J, van Rijswijk MH. Diagnostic accuracy & of subcutaneous abdominal fat tissue aspiration for detecting systemic amyloidosis and its utility in clinical practice. Arthritis Rheum 2006; 54:2015-2021. This paper recommends subcutaneous abdominal fat aspiration as the preferred method for detecting systemic amyloidosis, given its >80% accuracy.
17. Klein CJ, Vrana JA, Theis JD, et al. Mass spectrometric-based proteomic & analysis of amyloid neuropathy type in nerve tissue. Arch Neurol 2011; 68:195-199. This paper focuses on mass spectrometric-based proteomic analysis of amyloid neuropathy of unknown origin, which is especially useful to detect and understand the properties of new biochemicals.
18. England JD, Asbury AK. Peripheral neuropathy. Lancet 2004; 363:2151-2161.
19. Sipe JD, Benson MD, Buxbaum JN, et al. Nomenclature 2014: Amyloid fibril proteins and clinical classification of the amyloidosis. Amyloid 2014; 21:221-224.
20. Koike H, Misu K, Ikeda S, et al. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 2002; 59:1771-1776.
21. Do AB, Coelho T, Sousa A, Guimaraes A. Usefulness of labial salivary gland && biopsy in familial amyloid polyneuropathy Portuguese type. Amyloid 2009; 16:232-238. This paper shows where a simple labial salivary gland biopsy was carried out for an early diagnosis of the disease in Portugal, and has a very high sensitivity to detect amyloid deposits in recently symptomatic TTR gene carriers.
22. Westermark P. Subcutaneous adipose tissue biopsy for amyloid protein studies. Methods Mol Biol 2012; 849:363-371.
23. Kyle RA, Spencer RJ, Dahlin DC. Value of rectal biopsy in the diagnosis of primary systemic amyloidosis. Am J Med Sci 1966; 251:501-506.
24. Rocken C, Sletten K. Amyloid in surgical pathology. Virchows Arch 2003; 443:3-16.
25. Picken MM, Westermark P. Amyloid detection and typing: summary of current practice and recommendations of the consensus group. Amyloid 2011; 18:48-50.
26. Adams D, Theaudin M, Cauquil C, et al. FAP neuropathy and emerging treatments. Curr Neurol Neurosci Rep 2014; 14:435.
27. Sekijima Y, Yoshida K, Tokuda T, Ikeda S. Familial transthyretin amyloidosis. Gene Reviews. http://www.ncbi.nlm.nih.gov/books/NBK1194/. [Accessed 2 June 2015]
28. Lachmann HJ, Booth DR, Booth SE, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med 2002; 346:1786-1791.
29. Schonland SO, Hegenbart U, Bochtler T, et al. Immunohistochemistry in the classification of systemic forms of amyloidosis: a systematic investigation of 117 patients. Blood 2012; 119:488-493.
30. Adams D. Recent advances in the treatment of familial amyloid polyneuropathy. Ther Adv Neurol Disord 2013; 6:129-139.
31. 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; 7:2597-2604.
32. Algalarrondo V, Dinanian S, Juin C, et al. Prophylactic pacemaker implantation && in familial amyloid polyneuropathy. Heart Rhythm 2012; 9:1069 - 1075. The study investigated TTR-FAP patients with His-ventricular interval equivalent to 70 ms, or His-ventricular interval below 55 ms associated with a fascicular block, or a first-degree atrioventricular block, or a Wenckebach anterograde point equivalent to 100 bpm detected after an intracardiac electrophysiological investigation. Following prophylactic pacemaker implantation in 95 patients for a duration of over 45 + 35 months, a high-degree atrioventricular block was documented in 25% of patients.
33. Coutinho MC, Cortez-Dias N, Cantinho G, et al. Reduced myocardial 123-iodine metaiodobenzylguanidine uptake: a prognostic marker in familial amyloid polyneuropathy. Circ Cardiovasc Imaging 2013; 6:627-636.
34. Rousseau A, Kaswin G, Adams D, et al. Ocular involvement in familial amyloid polyneuropathy. J Fr Ophtalmol 2013; 36:779-788.
35. Lobato L, Beirao I, Silva M, et al. Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. Nephrol Dial Transplant 2003; 18:532-538.
36. Lobato L, Rocha A. Transthyretin amyloidosis and the kidney. Clin J Am Soc Nephrol 2012; 7:1337-1346.
37. Obici L, Kuks JB, Buades J, et al. Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol 2015. (In press).
38. Holmgren G, Ericzon BG, Groth CG, et al. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet 1993; 341:1113-1116.
39. Ericzon B-G, Wilczek HE, Larsson M, et al. Liver transplantation for hereditary && transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation 2015; 99:1847-1854. This major study assessed the prognostic factors for long-term survival after liver transplantation (LT) in a cohort of 1940 patients, evaluating the 20-year rate of survival, and emphasized early-onset Val30Met with short duration of the disease as best candidates for LT.
40. Algalarrondo V, Antonini T, Théaudin M, et al. Prediction of long-term survival after liver transplantation for familial transthyretin amyloidosis. J Am Coll Cardiol 2015. (In press).
41. French Referral Center for FAP and Other Rare Peripheral Neuropathies (NNERF). NNERF website [in French]. www.nnerf.fr/attrtransplantscore/. [Accessed 1 September 2015]
42. Holmgren G, Steen L, Ekstedt J, et al. Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin Genet 1991; 40:242-246.
43. Tsuchiya A, Yazaki M, Kametani F, et al. Marked regression of abdominal fat amyloid in patients with familial amyloid polyneuropathy during long-term follow-up after liver transplantation. Liver Transpl 2008; 14:563-570.
44. Suhr OB. Impact of liver transplantation on familial amyloidotic polyneuropathy (FAP) patients' symptoms and complications. Amyloid 2003; 10:77-83.
45. Yazaki M, Mitsuhashi S, Tokuda T, et al. Progressive wild-type transthyretin && deposition after liver transplantation preferentially occurs onto myocardium in FAP patients. Am J Transplant 2007; 7:235-242. Postmortem study of two Val30Leu TTR-FAP patients who died after progression of the disease. Post-liver transplantation showed paradoxical wild-type TTR deposition preferentially in myocardium, which led to fatal cardiac dysfunction.
46. Liepnieks JJ, Benson MD. Progression of cardiac amyloid deposition in hereditary transthyretin amyloidosis patients after liver transplantation. Amyloid 2007; 14:277-282.
47. 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; 93:1017-1023.
48. Okamoto S, Zhao Y, Lindqvist P, et al. Development of cardiomyopathy after & liver transplantation in Swedish hereditary transthyretin amyloidosis (ATTR) patients. Amyloid 2011; 18:200-205. This study highlighted that liver transplant does not slow the development of cardiomyopathy, and recommended combined heart and liver transplant in nonVal30Met patients.
49. Herlenius G, Wilczek HE, Larsson M, 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.
50. Arpesella G, Chiappini B, Marinelli G, et al. Combined heart and liver transplantation for familial amyloidotic polyneuropathy. J Thorac Cardiovasc Surg 2003; 125:1165-1166.
51. Rapezzi C, Perugini E, Salvi F, et al. Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? Amyloid 2006; 13:143-153.
52. Hara R, Kawaji T, Ando E, et al. Impact of liver transplantation on transthyretin-related ocular amyloidosis in Japanese patients. Arch Ophthalmol 2010; 128:206-210.
53. Sandgren O, Kjellgren D, Suhr OB. Ocular manifestations in liver transplant recipients with familial amyloid polyneuropathy. Acta Ophthalmol 2008; 86:520-524.
54. Maia LF, Magalhaes R, Freitas J, et al. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry 2015; 86:159-167.
55. Johnson SM, Connelly S, Fearns C, et al. The transthyretin amyloidoses: from delineating the molecular mechanism of aggregation linked to pathology to a regulatory-agency-approved drug. J Mol Biol 2012; 421:185-203.
56. Bulawa CE, Connelly S, Devit M, et al. Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. Proc Natl Acad Sci U S A 2012; 109:9629-9634.
57. EMA Committee for Medicinal Products for Human Use. Vyndaqel. European Medicines Agency. http://www.ema.europa.eu/docs/en_GB/document_library/Summary_of_opinion_-_Initial_authorisation/human/002294/ WC500109204.pdf. [Accessed 1 January 2015]
58. Coelho T, Maia LF, Martins da SA, et al. Tafamidis for transthyretin familial && amyloid polyneuropathy: a randomized, controlled trial. Neurology 2012; 79:785-792. This phase III clinical trial assessed the effect of tafamidis in Val30Met TTR-FAP on NIS progression showing statistically significant efficacy, demonstrating a delay in peripheral neurologic impairment with tafamidis.
59. 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; 260:2802-2814. This paper confirmed the positive effect of tafamidis in slowing progression of the disease in the 12-month extension phase of the previous study.
60. Lozeron P, Theaudin M, Mincheva Z, et al. Effect on disability and safety of & Tafamidis in late onset of Met30 transthyretin familial amyloid polyneuropathy. Eur J Neurol 2013; 20:1539-1545. In an open-label prospective study, 29 patients with Val30Met TTR-FAP with NIS greater than 10 were evaluated by NIS and disability scores at 6 months and 13 patients at 12 months after receiving tafamidis. The disease stage worsened in 20%, and two of nine developed orthostatic hypotension.
61. Merlini G, Plante-Bordeneuve V, Judge DP, et al. Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30-Met transthyretin amyloidosis. J Cardiovasc Transl Res 2013; 6:1011-1020.
62. Sekijima Y, Dendle MA, Kelly JW. Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis. Amyloid 2006; 13:236-249.
63. Tojo K, Sekijima Y, Kelly JW, et al. Diflunisal stabilizes familial amyloid polyneuropathy-associated transthyretin variant tetramers in serum against dissociation required for amyloidogenesis. Neurosci Res 2006; 56:441-449.
64. Berk JL, Suhr OB, Obici L, et al. Repurposing diflunisal for familial amyloid & polyneuropathy: a randomized clinical trial. JAMA 2013; 310:2658-2667. A randomized, double-blind, placebo-controlled study conducted among 130 patients with TTR-FAP randomly assigned to receive diflunisal 250 mg or placebo twice daily for 2 years showed reduction of the rate of progression of neurological impairment score NIS þ 7 and preserved quality of life.
65. Whelan CJ, Sattianayagam P, Dungu J, et al. Tolerability of diflunisal therapy in patients with transthyretin amyloidosis. XIIIth International Symposium on Amyloidosis; 6-10 May 2012. Abstract OP 56.
66. Castano A, Helmke S, Alvarez J, et al. Diflunisal for ATTR cardiac amyloidosis. Congest Heart Fail 2012; 18:315-319.
67. Harirforoosh S, Asghar W, Jamali F. Adverse effects of nonsteroidal antiinflammatory drugs: an update of gastrointestinal, cardiovascular and renal complications. J Pharm Pharm Sci 2013; 16:821-847.
68. Coelho T, Adams D, Silva A, et al. Safety and efficacy of RNAi therapy for && transthyretin amyloidosis. N Engl J Med 2013; 369:819-829. Antitransthyretin small interfering RNA, encapsulated in two distinct first- and second-generation formulations of lipid nanoparticles ALN-TTR01 and ALNTTR02, suppressed the production of both mutant and nonmutant forms of transthyretin in TTR-FAP, establishing proof-of-concept for RNAi therapy targeting messenger RNA transcribed from a disease-causing gene.
69. Alnylam Pharmaceuticals. APOLLO: The study of an investigational drug, patisiran (ALN-TTR02), for the treatment of transthyretin (TTR)-mediated. ClinicalTrials gov. https://www.clinicaltrials.gov/ct2/show/NCT01960348. [Accessed 1 January 2015]
70. Isis Pharmaceuticals. Efficacy and safety of ISIS-TTR Rx in famililal amyloid polyneuropathy. ClinicalTrials gov. www.clinicaltrials.gov/ct2/show/ NCT01737398. [Accessed 1 January 2015]
71. Cardoso I, Martins D, Ribeiro T, et al. Synergy of combined doxycycline/ TUDCA treatment in lowering Transthyretin deposition and associated biomarkers: studies in FAP mouse models. J Transl Med 2010; 8:74.
72. Brigham and Women's Hospital. Tolerability and efficacy of a combination of doxycycline and TUDCA in patients with transthyretin in amyloid cardiomyopathy. ClinicalTrials gov. [Accessed 1 January 2015]
73. IRCCS Policlinico S.Matteo. Safety, efficacy and pharmacokinetics of doxycycline plus tauroursodeoxycholic acid in transthyretin amyloidosis. ClinicalTrials gov. https://clinicaltrials.gov/ct2/show/NCT01171859. [Accessed 1 February 2015]
74. Obici L, Cortese A, Lozza A, et al. Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study. Amyloid 2012; 19:34-36.
75. Prothena Therapeutics Ltd. Phase 1/2, open label, dose escalation study of NEOD001 in subjects with light chain (AL) amyloidosis. ClinicalTrials gov. www.clinicaltrials.gov/ct2/show/NCT01707264. [Accessed 1 January 2015]
76. GlaxoSmithKline. A study to evaluate the safety of GSK2398852 when co-administered with GSK2315698 in patients with systemic amyloidosis. ClinicalTrials gov. www.clinicaltrials.gov/ct2/show/NCT01777243. [Accessed 1 January 2015]
77. Okamoto S, Wixner J, Obayashi K, et al. Liver transplantation for familial amyloidotic polyneuropathy: impact on Swedish patients' survival. Liver Transpl 2009; 15:1229-1235.