Management of gastrointestinal complications in hereditary transthyretin amyloidosis: a single-center experience over 40 years

References

• Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31.
   PubMed Web of Science ®Google Scholar
• Coutinho PM, Lázaro Da Silva A, Lopes J, et al. Forty years of experience with type I amyloid neuropathy. Review of 483 cases. 1980 cited 2017 Jul 7; Available from: https://www.scienceopen.com/document?vid=3a81c019-a30c-4c5a-9d7a-2db26a111dd2.
   Google Scholar
• Pepys MB. Pathogenesis, diagnosis and treatment of systemic amyloidosis. Philos Trans R Soc B Biol Sci. 2001;356:203–211.
   PubMed Web of Science ®Google Scholar
• Kanda Y, Goodman DS, Canfield RE, et al. The amino acid sequence of human plasma prealbumin. J. Biol. Chem. 1974;249:6796–6805.
   PubMed Web of Science ®Google Scholar
• Schreiber G, Richardson SJ. The evolution of gene expression, structure and function of transthyretin. Comp Biochem Physiol B Biochem Mol Biol. 1997;116:137–160.
   PubMed Web of Science ®Google Scholar
• Wallace MR, Naylor SL, Kluve-Beckerman B, et al. Localization of the human prealbumin gene to chromosome 18. Biochem Biophys Res Commun. 1985;129:753–758.
   PubMed Web of Science ®Google Scholar
• Quintas A, Vaz DC, Cardoso I, et al. Tetramer dissociation and monomer partial unfolding precedes protofibril formation in amyloidogenic transthyretin variants. J Biol Chem. 2001;276:27207–27213.
   Google Scholar
• Ihse E, Ybo A, Suhr O, et al. Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. J Pathol. 2008;216:253–261.
   PubMed Web of Science ®Google Scholar
• Wixner J, Mundayat R, Karayal ON, et al. THAOS: gastrointestinal manifestations of transthyretin amyloidosis – common complications of a rare disease. Orphanet J Rare Dis. 2014;9:61.
   PubMed Web of Science ®Google Scholar
• Gertz MA, Benson MD, Dyck PJ, et al. Diagnosis, prognosis, and therapy of transthyretin amyloidosis. J Am Coll Cardiol. 2015;66:2451–2466.
   Google Scholar
• Arvidsson S, Pilebro B, Westermark P, et al. Amyloid cardiomyopathy in hereditary transthyretin V30M amyloidosis – impact of sex and amyloid fibril composition. Gasset M, editor. Plos One. 2015;10:e0143456.
   Google Scholar
• Suhr OB, Lundgren E, Westermark P. One mutation, two distinct disease variants: unravelling the impact of transthyretin amyloid fibril composition. J Intern Med. 2017;281:337–347.
   Google Scholar
• Tashima K, Suhr OB, Ando Y, et al. Gastrointestinal dysfunction in familial amyloidotic polyneuropathy (ATTR Val30Met)--comparison of Swedish and Japanese patients. Amyloid. 1999;6(2):124–129.
   Google Scholar
• Steen L, Ek B. Familial amyloidosis with polyneuropathy. Acta Med Scand. 1983;214:387–397.
   PubMedGoogle Scholar
• Ikeda S, Yanagisawa N, Hongo M, et al. Vagus nerve and celiac ganglion lesions in generalized amyloidosis. A correlative study of familial amyloid polyneuropathy and AL-amyloidosis. J Neurol Sci. 1987;79:129–139.
   PubMed Web of Science ®Google Scholar
• Anan I, El-Salhy M, Ando Y, et al. Colonic endocrine cells in patients with familial amyloidotic polyneuropathy. J Intern Med. 1999;245:469–473.
   PubMed Web of Science ®Google Scholar
• Yoshimatsu S, Ando Y, Terazaki H, et al. Endoscopic and pathological manifestations of the gastrointestinal tract in familial amyloidotic polyneuropathy type I (Met30). J Intern Med. 1998;243:65–72.
   PubMed Web of Science ®Google Scholar
• el-Salhy M, Suhr O, Stenling R, et al. Impact of familial amyloid associated polyneuropathy on duodenal endocrine cells. Gut. 1994;35:1413–1418.
   PubMed Web of Science ®Google Scholar
• Wixner J, Obayashi K, Ando Y, et al. Loss of gastric interstitial cells of Cajal in patients with hereditary transthyretin amyloidosis. Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis. 2013;20:99–106.
   PubMed Web of Science ®Google Scholar
• Suhr OB, Anan I, Ahlström KR, et al. Gastric emptying before and after liver transplantation for familial amyloidotic polyneuropathy, Portuguese type (Val30Met). Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis. 2003;10:121–126.
   PubMed Web of Science ®Google Scholar
• Wixner J, Sundström T, Karling P, et al. Outcome of gastric emptying and gastrointestinal symptoms after liver transplantation for hereditary transthyretin amyloidosis. BMC Gastroenterol. Internet. 2015; 15 cited 2017 Jul 7. Available from: http://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-015-0284-4.
   PubMed Web of Science ®Google Scholar
• Jonsén E, Suhr O, Athlin E, et al. Quality of life after liver transplantation in patients with familial amyloidotic polyneuropathy. Amyloid. 1996;3:124–129.
   Web of Science ®Google Scholar
• Bjerle P, Ek B, Linderholm H, et al. Oesophageal dysfunction in familial amyloidosis with polyneuropathy. Clin Physiol Oxf Engl. 1993;13:57–69.
   PubMedGoogle Scholar
• Monteiro C, Magalhães M, Correia C, et al. Permanent dysphagia in familial amyloid polyneuropathy (ATTRVal30Met). Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis. 2012;19:110–112.
   PubMed Web of Science ®Google Scholar
• Suhr O, Danielsson Å, Rydh A, et al. Impact of gastrointestinal dysfunction on survival after liver transplantation for familial amyloidotic polyneuropathy. Dig Dis Sci. 1996;41:1909–1914.
   PubMed Web of Science ®Google Scholar
• Andersson R. Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden. Acta Med Scand Suppl. 1976;590:1–64.
   PubMedGoogle Scholar
• 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;235:479–485.
   PubMed Web of Science ®Google Scholar
• Suhr OB, Holmgren G, Steen L, et al. Liver transplantation in familial amyloidotic polyneuropathy. Follow-up of the first 20 Swedish patients. Transplantation. 1995;60:933–938.
   PubMed Web of Science ®Google Scholar
• Suhr OB, Wixner J, Pilebro B, et al. The Swedish landscape of hereditary ATTR amyloidosis. Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis. 2017;24:93–94.
   PubMed Web of Science ®Google Scholar
• Olsson M, Jonasson J, Cederquist K, et al. Frequency of the transthyretin Val30Met mutation in the northern Swedish population. Amyloid. 2014;21:18–20.
   PubMed Web of Science ®Google Scholar
• Hellman U, Alarcon F, Lundgren H-E, et al. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis. 2008;15:181–186.
   PubMed Web of Science ®Google Scholar
• Wixner J, Karling P, Rydh A, et al. Gastric emptying in hereditary transthyretin amyloidosis: the impact of autonomic neuropathy. Neurogastroenterol Motil. 2012;24:1111–e568.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Jonsén E, Suhr OB, Tashima K, et al. Early liver transplantation is essential for familial amyloidotic polyneuropathy patients’ quality of life. Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis. 2001;8:52–57.
   PubMed Web of Science ®Google Scholar
• Grybäck P, Hermansson G, Lyrenäs E, et al. Nationwide standardisation and evaluation of scintigraphic gastric emptying: reference values and comparisons between subgroups in a multicentre trial. Eur J Nucl Med. 2000;27:647–655.
   PubMedGoogle Scholar
• McCallum RW, Cynshi O, Investigative Team. Clinical trial: effect of mitemcinal (a motilin agonist) on gastric emptying in patients with gastroparesis – a randomized, multicentre, placebo-controlled study. Aliment Pharmacol Ther. 2007;26:1121–1130.
   PubMed Web of Science ®Google Scholar
• Wixner J, Suhr O, Karling P, et al. Delayed small bowel octreotide response in patients with hereditary transthyretin amyloidosis. Orphanet J Rare Dis. 2015;10(Suppl 1):36.
   Google Scholar
• Husebye E. The patterns of small bowel motility: physiology and implications in organic disease and functional disorders. Neurogastroenterol Motil Off J Eur Gastrointest Motil Soc. 1999;11:141–161.
   PubMed Web of Science ®Google Scholar
• Rezaie A, Buresi M, Lembo A, et al. Hydrogen and methane-based breath testing in gastrointestinal disorders: the North American consensus. Am J Gastroenterol. 2017;112:775–784.
   PubMed Web of Science ®Google Scholar
• Suhr O, Danielsson A, Steen L. Bile acid malabsorption caused by gastrointestinal motility dysfunction? An investigation of gastrointestinal disturbances in familial amyloidosis with polyneuropathy. Scand J Gastroenterol. 1992;27:201–207.
   PubMed Web of Science ®Google Scholar
• Suhr O, Danielsson A, Hörstedt P, et al. Bacterial contamination of the small bowel evaluated by breath tests, 75Se-labelled homocholic-tauro acid, and scanning electron microscopy. Scand J Gastroenterol. 1990;25:841–852.
   PubMed Web of Science ®Google Scholar
• Lång K, Wikström L, Danielsson A, et al. Outcome of gastrointestinal complications after liver transplantation for familial amyloidotic polyneuropathy. Scand J Gastroenterol. 2000;35:985–989.
   PubMed Web of Science ®Google Scholar
• Gasbarrini A, Corazza GR, Gasbarrini G, et al. Methodology and indications of H2-breath testing in gastrointestinal diseases: the Rome Consensus Conference. Aliment Pharmacol Ther. 2009;29(Suppl 1):1–49.
   PubMed Web of Science ®Google Scholar
• Tabaqchali S, Hatzioannou J, Booth CC. Bile-salt deconjugation and steatorrhoea in patients with the stagnant-loop syndrome. Lancet Lond Engl. 1968;2:12–16.
   PubMed Web of Science ®Google Scholar
• Thaysen EH, Pedersen L. Idiopathic bile acid catharsis. Gut. 1976;17:965–970.
   PubMed Web of Science ®Google Scholar
• Teh LB, Stopard M, Anderson S, et al. Assessment of fat malabsorption. J Clin Pathol. 1983;36:1362–1366.
   PubMed Web of Science ®Google Scholar
• Newcomer AD, Hofmann AF, DiMagno EP, et al. Triolein breath test: a sensitive and specific test for fat malabsorption. Gastroenterology. 1979;76:6–13.
   PubMed Web of Science ®Google Scholar
• Conceição IM, Miranda LC, Simões E, et al. Bone mineral density in familial amyloid polyneuropathy and in other neuromuscular disorders. Eur J Neurol. 2005;12:480–482.
   PubMed Web of Science ®Google Scholar
• Ando Y, Asahara K, Obayashi K, et al. Autonomic dysfunction and anemia in neurologic disorders. J Auton Nerv Syst. 1996;61:145–148.
   PubMedGoogle Scholar
• Asahara K, Ando Y, Tanaka Y, et al. Secondary hypoplastic anemia in patients with familial amyloidotic polyneuropathy. Acta Haematol. 1993;90:130–135.
   PubMed Web of Science ®Google Scholar
• Beirão I, Lobato L, Costa PMP, et al. Liver transplantation and anemia in familial amyloidosis ATTR V30M. Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis. 2007;14:33–37.
   PubMed Web of Science ®Google Scholar
• Olofsson BO, Grankvist K, Boman K, et al. Assessment of thyroid and adrenal function in patients with familial amyloidotic polyneuropathy. J Intern Med. 1989;225:337–341.
   PubMed Web of Science ®Google Scholar
• Anan I, El-Salhy M, Nyhlin N, et al. Liver transplantation restores endocrine cells in patients with familial amyloidotic polyneuropathy. Transplantation. 2000;70:794–799.
   PubMed Web of Science ®Google Scholar
• Coelho T, Maia LF, Martins Da Silva A, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology. 2012;79:785–792.
   PubMed Web of Science ®Google Scholar
• Suhr OB, Conceicao I, Karayal O, et al. Nutritional status and autonomic function in clinical trials of tafamidis for transthyretin familial polyneuropathy. Eur J Neurol. 2012;19:775–775.
   Web of Science ®Google Scholar
• Suhr OB, Coelho T, Buades J, et al. Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study. Orphanet J Rare Dis. 2015;10:109.
   PubMed Web of Science ®Google Scholar
• Ackermann EJ, Guo S, Benson MD, et al. Suppressing transthyretin production in mice, monkeys and humans using 2nd-Generation antisense oligonucleotides. Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis. 2016;23:148–157.
   PubMed Web of Science ®Google Scholar
• Alam U, Asghar O, Malik RA. Diabetic gastroparesis: therapeutic options. Diabetes Ther Res Treat Educ Diabetes Relat Disord. 2010;1:32–43.
   PubMedGoogle Scholar
• Stevens JE, Jones KL, Rayner CK, et al. Pathophysiology and pharmacotherapy of gastroparesis: current and future perspectives. Expert Opin Pharmacother. 2013;14:1171–1186.
   PubMed Web of Science ®Google Scholar
• Sanger GJ, Wang Y, Hobson A, et al. Motilin: towards a new understanding of the gastrointestinal neuropharmacology and therapeutic use of motilin receptor agonists. Br J Pharmacol. 2013;170:1323–1332.
   PubMed Web of Science ®Google Scholar
• Ramirez B, Eaker EY, Drane WE, et al. Erythromycin enhances gastric emptying in patients with gastroparesis after vagotomy and antrectomy. Dig Dis Sci. 1994;39:2295–2300.
   PubMed Web of Science ®Google Scholar
• Janssen P, Harris MS, Jones M, et al. The relation between symptom improvement and gastric emptying in the treatment of diabetic and idiopathic gastroparesis. Am J Gastroenterol. 2013;108:1382–1391.
   PubMed Web of Science ®Google Scholar
• Hasler WL. Emerging drugs for the treatment of gastroparesis. Expert Opin Emerg Drugs. 2014;19:261–279.
   PubMed Web of Science ®Google Scholar
• Gourcerol G, Leblanc I, Leroi AM, et al. Gastric electrical stimulation in medically refractory nausea and vomiting. Eur J Gastroenterol Hepatol. 2007;19:29–35.
   PubMed Web of Science ®Google Scholar
• Lee-Robichaud H, Thomas K, Morgan J, et al. Lactulose versus polyethylene glycol for chronic constipation. Cochrane Database Syst Rev. 2010;7:1–41.
   Web of Science ®Google Scholar
• Gale JD. The use of novel promotility and prosecretory agents for the treatment of chronic idiopathic constipation and irritable bowel syndrome with constipation. Adv Ther. 2009;26:519–530.
   PubMed Web of Science ®Google Scholar
• Lauritano EC, Gabrielli M, Lupascu A, et al. Rifaximin dose-finding study for the treatment of small intestinal bacterial overgrowth. Aliment Pharmacol Ther. 2005;22:31–35.
   PubMed Web of Science ®Google Scholar
• Fromm H, Malavolti M. Bile acid-induced diarrhoea. Clin Gastroenterol. 1986;15:567–582.
   PubMedGoogle Scholar
• Carvalho M, Alves M, Luis ML. Octreotide--a new treatment for diarrhoea in familial amyloidotic polyneuropathy. J. Neurol. Neurosurg. Psychiatry. 1992;55:860–861.
   PubMed Web of Science ®Google Scholar
• Lyford G, Foxx-Orenstein A. Chronic intestinal pseudoobstruction. Curr Treat Options Gastroenterol. 2004;7:317–325.
   PubMedGoogle Scholar
• Ek BO, Holmlund DE, Sjödin JG, et al. Enterostomy in patients with primary neuropathic amyloidosis. Semantic scholar. Am J Gastroenterol. 1978;70:365–370.
   PubMed Web of Science ®Google Scholar
• Milat F, Ebeling PR. Osteoporosis treatment: a missed opportunity. Med J Aust. 2016;205:185–190.
   PubMed Web of Science ®Google Scholar
• Scott EM, Gaywood I, Scott BB. Guidelines for osteoporosis in coeliac disease and inflammatory bowel disease. Gut. 2000;46:I1–I8.
   PubMed Web of Science ®Google Scholar
• Festen HP. Intrinsic factor secretion and cobalamin absorption. Physiology and pathophysiology in the gastrointestinal tract. Scand J Gastroenterol Suppl. 1991;188:1–7.
   PubMedGoogle Scholar
• Marcoux J, Mangione PP, Porcari R, et al. A novel mechano-enzymatic cleavage mechanism underlies transthyretin amyloidogenesis. EMBO Mol Med. 2015;7:1337–1349.
   PubMed Web of Science ®Google Scholar
• Azevedo E, Silva PF, Palhano F, et al. Transthyretin-related amyloidoses: chapter 6 a structural and thermodynamic approach [Internet]. 2013cited 2017 Jul 10.
   Google Scholar