THAOS: Gastrointestinal manifestations of transthyretin amyloidosis - Common complications of a rare disease

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Wixner, Jonas ^a   Mundayat, Rajiv ^b   Karayal, Onur N ^b   Anan, Intissar ^a   Karling, Pontus ^a   Suhr, Ole B ^a  

^a UMEÅ UNIVERSITY   (Sweden)

^b PFIZER INC   (United States)

Author keywords

Amyloid; Amyloid neuropathies; Amyloidosis; Cardiomyopathies; Functional; Gastrointestinal disorders; Hereditary; Nutritional status; Quality of life; Secondary; Transthyretin

Indexed keywords

PREALBUMIN; SERUM ALBUMIN;

ADULT; ALBUMIN BLOOD LEVEL; ALGORITHM; AMYLOIDOSIS; ARTICLE; BODY MASS; CLINICAL PRACTICE; CONSTIPATION; DIARRHEA; DISEASE REGISTRY; FECES INCONTINENCE; FEMALE; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENOTYPE; HEALTH CARE SURVEY; HUMAN; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MALE; MOTOR NEUROPATHY; NAUSEA AND VOMITING; NUTRITIONAL STATUS; OBSERVATIONAL STUDY; PREVALENCE; QUALITY OF LIFE; QUESTIONNAIRE; SENSORY NEUROPATHY; TRANSTHYRETIN AMYLOIDOSIS; TRANSTHYRETIN AMYLOIDOSIS OUTCOME SURVEY; VISUAL ANALOG SCALE; WEIGHT REDUCTION; WILD TYPE;

AMYLOID NEUROPATHIES, FAMILIAL; FEMALE; GASTROINTESTINAL DISEASES; HUMANS; MALE; MUTATION; NUTRITIONAL STATUS; PREALBUMIN; QUALITY OF LIFE;

EID: 84899902920     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-61     Document Type: Article

References (57)

1. Familial amyloid polyneuropathy. Planté-Bordeneuve V, Said G, Lancet Neurol 2011 10 1086 1097 10.1016/S1474-4422(11)70246-0 22094129
2. Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients. Olsson M, Hellman U, Planté-Bordeneuve V, Jonasson J, Lång K, Suhr OB, Clin Genet 2009 75 163 168 10.1111/j.1399-0004.2008.01097.x 19018796
3. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. Jacobson DR, Pastore RD, Yaghoubian R, Kane I, Gallo G, Buck FS, Buxbaum JN, N Engl J Med 1997 336 466 473 10.1056/ NEJM199702133360703 9017939
4. The molecular biology and clinical features of amyloid neuropathy. Benson MD, Kincaid JC, Muscle Nerve 2007 36 411 423 10.1002/mus.20821 17554795
5. Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. Ihse E, Ybo A, Suhr O, Lindqvist P, Backman C, Westermark P, J Pathol 2008 216 253 261 10.1002/path.2411 18729067
6. Tetramer dissociation and monomer partial unfolding precedes protofibril formation in amyloidogenic transthyretin variants. Quintas A, Vaz DC, Cardoso I, Saraiva MJ, Brito RM, J Biol Chem 2001 276 27207 27213 10.1074/jbc.M101024200 11306576
7. Transthyretin amyloidosis: a tale of weak interactions. Saraiva MJ, FEBS Lett 2001 498 201 203 10.1016/S0014-5793(01)02480-2 11412857
8. Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene. Herrick MK, DeBruyne K, Horoupian DS, Skare J, Vanefsky MA, Ong T, Neurology 1996 47 988 992 10.1212/WNL.47.4.988 8857732
9. Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64. Uemichi T, Uitti RJ, Koeppen AH, Donat JR, Benson MD, Arch Neurol 1999 56 1152 1155 10.1001/archneur.56.9.1152 10488818
10. Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. Blevins G, Macaulay R, Harder S, Fladeland D, Yamashita T, Yazaki M, Hamidi Asl K, Benson MD, Donat JR, Neurology 2003 60 1625 1630 10.1212/01.WNL.0000065901.18353.AB 12771253
11. Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis. Jin K, Sato S, Takahashi T, Nakazaki H, Date Y, Nakazato M, Tominaga T, Itoyama Y, Ikeda S, J Neurol Neurosurg Psychiatry 2004 75 1463 1466 15377697
12. Oculoleptomeningeal amyloidosis in a patient with a TTR Val30Gly mutation in the transthyretin gene. Roe RH, Fisher Y, Eagle RC Jr, Fine HF, Cunningham ET Jr, Ophthalmology 2007 114 33 37 10.1016/j.ophtha.2007.07.007 17980738
13. Tabulation of human transthyretin (TTR) variants, 2003. Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE, Amyloid 2003 10 160 184 10.3109/13506120308998998 14640030
14. Malnutrition and gastrointestinal dysfunction as prognostic factors for survival in familial amyloidotic polyneuropathy. Suhr O, Danielsson A, Holmgren G, Steen L, J Intern Med 1994 235 479 485 10.1111/j.1365-2796.1994.tb01106.x 8182405
15. Impact of gastrointestinal dysfunction on survival after liver transplantation for familial amyloidotic polyneuropathy. Suhr O, Danielsson A, Rydh A, Nyhlin N, Hietala SO, Steen L, Dig Dis Sci 1996 41 1909 1914 10.1007/BF02093589 8888700
16. Hereditary transthyretin amyloidosis from a Scandinavian perspective. Suhr OB, Svendsen IH, Andersson R, Danielsson A, Holmgren G, Ranlov PJ, J Intern Med 2003 254 225 235 10.1046/j.1365-2796.2003.01173.x 12930231
17. THAOS-The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. Coelho T, Maurer MS, Suhr OB, Curr Med Res Opin 2013 29 63 76 10.1185/03007995.2012.754348 23193944
18. Impact of serotonin transporter and catechol-O-methyl transferase genes polymorphism on gastrointestinal dysfunction in Swedish and Japanese familial amyloidotic polyneuropathy patients. Obayashi K, Olsson M, Anan I, Ueda M, Nakamura M, Okamoto S, Yamashita T, Miida T, Ando Y, Suhr OB, Clin Chim Acta 2008 398 10 14 10.1016/j.cca.2008.07.033 18760272
19. Gastrointestinal dysfunction in familial amyloidotic polyneuropathy (ATTR Val30Met)-comparison of Swedish and Japanese patients. Tashima K, Suhr OB, Ando Y, Holmgren G, Yamashita T, Obayashi K, Terazaki H, Uchino M, Amyloid 1999 6 124 129 10.3109/13506129909007313 10439119
20. Clinical features of TTR-FAP in Portugal. Conceição I, Amyloid 2012 19 Suppl 1 71 72 22480206
21. Liver transplantation for familial amyloidotic polyneuropathy: impact on Swedish patients' survival. Okamoto S, Wixner J, Obayashi K, Ando Y, Ericzon B-G, Friman S, Uchino M, Suhr OB, Liver Transpl 2009 15 1229 1235 10.1002/lt.21817 19790145
22. Liver transplantation for hereditary transthyretin amyloidosis. Suhr OB, Herlenius G, Friman S, Ericzon BG, Liver Transpl 2000 6 263 276 10.1053/lv.2000.6145 10827225
23. Liver transplantation for familial amyloidotic polyneuropathy (FAP): a single-center experience over 16 years. Yamamoto S, Wilczek HE, Nowak G, Larsson M, Oksanen A, Iwata T, Gjertsen H, Söderdahl G, Wikström L, Ando Y, Suhr OB, Ericzon B-G, Am J Transplant 2007 7 2597 2604 10.1111/j.1600-6143.2007. 01969.x 17868062
24. Tafamidis. Said G, Grippon S, Kirkpatrick P, Nat Rev Drug Discov 2012 11 185 186 10.1038/nrd3675 22378262
25. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. Berk JL, Suhr OB, Obici L, Sekijima Y, Zeldenrust SR, Yamashita T, Heneghan MA, Gorevic PD, Litchy WJ, Wiesman JF, Nordh E, Corato M, Lozza A, Cortese A, Robinson-Papp J, Colton T, Rybin DV, Bisbee AB, Ando Y, Ikeda S, Seldin DC, Merlini G, Skinner M, Kelly JW, Dyck PJ, Diflunisal Trial Consortium, JAMA 2013 310 2658 2667 24368466
26. Recent advances in the treatment of familial amyloid polyneuropathy. Adams D, Ther Adv Neurol Disord 2013 6 129 139 10.1177/1756285612470192 23483184
27. The Transthyretin Amyloidosis Outcomes Survey (THAOS) registry: design and methodology. Planté-Bordeneuve V, Suhr OB, Maurer MS, White B, Grogan DR, Coelho T, Curr Med Res Opin 2013 29 77 84 10.1185/03007995.2012.754349 23193943
28. Transthyretin-Associated Amyloidoses Outcome Survey (THAOS)-Full Text View-ClinicalTrials.gov. http://www.clinicaltrials.gov/ct2/show/NCT00628745
29. EuroQol - a new facility for the measurement of health-related quality of life. The EuroQol Group. EuroQol Group, Health Policy 1990 16 199 208 10109801
30. US valuation of the EQ-5D health states: development and testing of the D1 valuation model. Shaw JW, Johnson JA, Coons SJ, Med Care 2005 43 203 220 10.1097/00005650-200503000-00003 15725977
31. The epidemiology of abdominal symptoms: prevalence and demographic characteristics in a Swedish adult population. A report from the Abdominal Symptom Study. Agréus L, Svärdsudd K, Nyrén O, Tibblin G, Scand J Gastroenterol 1994 29 102 109 10.3109/00365529409090447 8171277
32. Definition and epidemiology of functional gastrointestinal disorders. Corazziari E, Best Pract Res Clin Gastroenterol 2004 18 613 631 15324703
33. Epidemiology of the functional gastrointestinal disorders diagnosed according to Rome II criteria: an Australian population-based study. Boyce PM, Talley NJ, Burke C, Koloski NA, Intern Med J 2006 36 28 36 10.1111/j.1445-5994. 2006.01006.x 16409310
34. Prevalence of functional gastrointestinal disorders in Taiwan: questionnaire-based survey for adults based on the Rome III criteria. Chang F-Y, Chen P-H, Wu T-C, Pan W-H, Chang H-Y, Wu S-J, Yeh N-H, Tang R-B, Wu L, James FE, Asia Pac J Clin Nutr 2012 21 594 600 23017318
35. A school-based study with Rome III criteria on the prevalence of functional gastrointestinal disorders in Chinese college and university students. Dong Y-Y, Chen F-X, Yu Y-B, Du C, Qi Q-Q, Liu H, Li Y-Q, PLoS ONE 2013 8 54183 10.1371/journal.pone.0054183 23349820
36. Forty years of experience with type I amyloid neuropathy. Review of 483 cases. Coutinho P, Martins da Silva A, Lopes Lima J, Resende Barbosa A, Amyloid and Amyloidosis Amsterdam: Excerpta Medica 1980 88 98
37. Deposition of Transthyretin in Early Stages of Familial Amyloidotic Polyneuropathy. Mendes Sousa M, Cardoso I, Fernandes R, Guimaraes A, Saraiva MJ, Am J Pathol 2001 159 1993 2000 10.1016/S0002-9440(10)63050-7 11733349
38. Cellular consequences of transthyretin deposition. Saraiva MJ, Amyloid 2003 10 Suppl 1 13 16 14640036
39. Gastric emptying before and after liver transplantation for familial amyloidotic polyneuropathy, Portuguese type (Val30Met). Suhr OB, Anan I, Ahlström KR, Rydh A, Amyloid 2003 10 121 126 10.3109/13506120309041734 12964420
40. Gastric emptying in hereditary transthyretin amyloidosis: the impact of autonomic neuropathy. Wixner J, Karling P, Rydh A, Hörnsten R, Wiklund U, Anan I, Suhr OB, Neurogastroenterol Motil 2012 24 12 1111 e568 10.1111/j.1365-2982.2012.01991.x 22897426
41. Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal. Conceição I, De Carvalho M, Muscle Nerve 2007 35 116 118 10.1002/mus.20644 16969832
42. Late-onset familial amyloid polyneuropathy in Japan. Koike H, Sobue G, Amyloid 2012 19 Suppl 1 55 57 22506939
43. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Sousa A, Andersson R, Drugge U, Holmgren G, Sandgren O, Hum Hered 1993 43 288 294 10.1159/000154146 8406517
44. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal). Sousa A, Coelho T, Barros J, Sequeiros J, Am J Med Genet 1995 60 512 521 10.1002/ajmg. 1320600606 8825887
45. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Hellman U, Alarcon F, Lundgren H-E, Suhr OB, Bonaiti-Pellié C, Planté-Bordeneuve V, Amyloid 2008 15 181 186 10.1080/13506120802193720 18925456
46. Fecal incontinence in US adults: epidemiology and risk factors. Whitehead WE, Borrud L, Goode PS, Meikle S, Mueller ER, Tuteja A, Weidner A, Weinstein M, Ye W, Gastroenterology 2009 137 512 517 517.e1-2 10.1053/j.gastro.2009.04.054 19410574
47. Prevalence of faecal incontinence in adults aged 30 years or more in general population. Aitola P, Lehto K, Fonsell R, Huhtala H, Colorectal Dis 2010 12 687 691 19486087
48. Prevalence of faecal incontinence and analysis of its impact on quality of life and mental health. Parés D, Vial M, Bohle B, Maestre Y, Pera M, Roura M, Comas M, Sala M, Grande L, Colorectal Dis 2011 13 899 905 10.1111/j.1463-1318.2010.02281.x 20394640
49. Prevalence and predictive factors of fecal incontinence. Kang H-W, Jung H-K, Kwon K-J, Song E-M, Choi J-Y, Kim S-E, Shim K-N, Jung S-A, J Neurogastroenterol Motil 2012 18 86 93 10.5056/jnm.2012.18.1.86 22323992
50. Vagus nerve and celiac ganglion lesions in generalized amyloidosis. A correlative study of familial amyloid polyneuropathy and AL-amyloidosis. Ikeda S, Yanagisawa N, Hongo M, Ito N, J Neurol Sci 1987 79 129 139 10.1016/0022-510X(87)90267-X 3039063
51. The neuroendocrine system and gastrointestinal complications in patients with familial amyloidosis and polyneuropathy. El-Salhy M, Nyhlin N, Ando Y, Suhr O, Scand J Gastroenterol 1997 32 849 854 10.3109/00365529709011190 9299659
52. Endoscopic and pathological manifestations of the gastrointestinal tract in familial amyloidotic polyneuropathy type I (Met30). Yoshimatsu S, Ando Y, Terazaki H, Sakashita N, Tada S, Yamashita T, Suga M, Uchino M, Ando M, J Intern Med 1998 243 65 72 10.1046/j.1365-2796.1998.00247.x 9487333
53. Endocrine cells in the upper gastrointestinal tract in relation to gastrointestinal dysfunction in patients with familial amyloidotic polyneuropathy. Nyhlin N, Anan I, El-Salhy M, Ando Y, Suhr OB, Amyloid 1999 6 192 198 10.3109/13506129909007326 10524284
54. Colonic endocrine cells in patients with familial amyloidotic polyneuropathy. Anan I, El-Salhy M, Ando Y, Nyhlin N, Terazaki H, Sakashita N, Suhr O, J Intern Med 1999 245 469 473 10.1046/j.1365-2796.1999.00484.x 10363747
55. Loss of gastric interstitial cells of Cajal in patients with hereditary transthyretin amyloidosis. Wixner J, Obayashi K, Ando Y, Karling P, Anan I, Amyloid 2013 20 2 99 106 10.3109/13506129.2013.787985 23642163
56. Familial amyloidosis with polyneuropathy. A long-term follow-up of 21 patients with special reference to gastrointestinal symptoms. Steen L, Ek B, Acta Med Scand 1983 214 387 397 6660047
57. Bile acid malabsorption caused by gastrointestinal motility dysfunction? An investigation of gastrointestinal disturbances in familial amyloidosis with polyneuropathy. Suhr O, Danielsson A, Steen L, Scand J Gastroenterol 1992 27 201 207 10.3109/00365529208999949 1502482