Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology

References

• Planté-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol. 2011;10(12):1086–1097.
   PubMed Web of Science ®Google Scholar
• Rowczenio DM, Noor I, Gillmore JD, et al. Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum Mutat. 2014;35(9):E2403–E2412.
   PubMed Web of Science ®Google Scholar
• Adams D, Ando Y, Beirão JM, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. 2021;268(6):2109–2122.
   PubMed Web of Science ®Google Scholar
• Adams D, Koike H, Slama M, et al. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol. 2019;15(7):387–404.
   PubMed Web of Science ®Google Scholar
• Lozeron P, Lacroix C, Theaudin M, et al. An amyotrophic lateral sclerosis-like syndrome revealing an amyloid polyneuropathy associated with a novel transthyretin mutation. Amyloid. 2013;20(3):188–192.
   PubMed Web of Science ®Google Scholar
• Lozeron P, Mariani LL, Dodet P, et al. Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy. Neurology. 2018;91(2):e143–e152.
   PubMed Web of Science ®Google Scholar
• Cortese A, Vegezzi E, Lozza A, et al. Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy. J Neurol Neurosurg Psychiatry. 2017;88(5):457–458.
   PubMed Web of Science ®Google Scholar
• Maurer MS, Bokhari S, Damy T, et al. Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis. Circ Heart Fail. 2019;12(9):e006075.
   PubMed Web of Science ®Google Scholar
• Eldhagen P, Berg S, Lund LH, et al. Transthyretin amyloid deposits in lumbar spinal stenosis and assessment of signs of systemic amyloidosis. J Intern Med. 2021;289(6):895–905.
   PubMed Web of Science ®Google Scholar
• Rubin J, Alvarez J, Teruya S, et al. Hip and knee arthroplasty are common among patients with transthyretin cardiac amyloidosis, occurring years before cardiac amyloid diagnosis: can we identify affected patients earlier? Amyloid. 2017;24(4):226–230.
   PubMed Web of Science ®Google Scholar
• Geller HI, Singh A, Alexander KM, et al. Association between ruptured distal biceps tendon and wild-type transthyretin cardiac amyloidosis. JAMA. 2017;318(10):962–963.
   PubMed Web of Science ®Google Scholar
• Nakagawa M, Sekijima Y, Yazaki M, et al. Carpal tunnel syndrome: a common initial symptom of systemic wild-type ATTR (ATTRwt) amyloidosis. Amyloid. 2016;23(1):58–63.
   PubMed Web of Science ®Google Scholar
• Ando Y, Nakamura M, Araki S. Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol. 2005;62(7):1057–1062.
   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(1):18–20.
   PubMed Web of Science ®Google Scholar
• Hellman U, Alarcon F, Lundgren HE, et al. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid. 2008;15(3):181–186.
   PubMed Web of Science ®Google Scholar
• Damrauer SM, Chaudhary K, Cho JH, et al. Association of the V122I hereditary transthyretin amyloidosis genetic variant with heart failure among individuals of African or Hispanic/Latino ancestry. JAMA. 2019;322(22):2191–2202.
   PubMed Web of Science ®Google Scholar
• Alexander KM, Falk RH. V122I TTR cardiac amyloidosis in patients of African descent: recognizing a missed disease or the dog that didn't bark? Circ Heart Fail. 2016;9(9):e003489.
   PubMed Web of Science ®Google Scholar
• 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(5):545–552.
   PubMed Web of Science ®Google Scholar
• Reinés JB, Vera TR, Martín MU, et al. Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study. Orphanet J Rare Dis. 2014;9:29.
   PubMed Web of Science ®Google Scholar
• Dardiotis E, Koutsou P, Papanicolaou EZ, et al. Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus. Amyloid. 2009;16(1):32–37.
   PubMed Web of Science ®Google Scholar
• 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. 2016;29(Suppl 1):S3–S13.
   PubMed Web of Science ®Google Scholar
• Lopes LR, Futema M, Akhtar MM, et al. Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy. Amyloid. 2019;26(4):243–247.
   PubMed Web of Science ®Google Scholar
• Damy T, Costes B, Hagege AA, et al. Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. Eur Heart J. 2016;37(23):1826–1834.
   PubMed Web of Science ®Google Scholar
• Human gene mutation database.2020.4; 2020 [cited 2020 Dec 18]. Available from: https://digitalinsights.qiagen.com/
   Google Scholar
• ClinVar - NCBI; https://www.ncbi.nlm.nih.gov/clinvar/
   Google Scholar
• Trujillano D, Oprea GE, Schmitz Y, et al. A comprehensive global genotype-phenotype database for rare diseases. Mol Genet Genomic Med. 2017;5(1):66–75.
   PubMed Web of Science ®Google Scholar
• IBM Corp. IBM SPSS statistics for windows, Version 26.0. Armonk (NY): IBM Corp; 2019.
   Google Scholar
• R Core Team. R: a language and environment for statistical computing. Vienna: R Foundation for Statistical Computing; 2017 [cited 2020 Dec 18]. Available from: https://www.R-project.org/
   Google Scholar
• Ben-Shachar Makowski Lüdecke Compute and interpret indices of effect size. CRAN; 2020 [cited 2020 Dec 18]. Available from: https://github.com/easystats/effectsize
   Google Scholar
• 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(7):520–528.
   PubMed Web of Science ®Google Scholar
• Damy T, Kristen AV, Suhr OB, et al. Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the transthyretin amyloidosis outcomes survey (THAOS). Eur Heart J. 2019.
   PubMedGoogle Scholar
• OMIM. Online Mendelian Inheritance in Man; 2020 [cited 2020 Dec 18]. Available from: https://omim.org/allelicVariants/
   Google Scholar
• Hinderhofer K, Obermaier C, Hegenbart U, et al. New sequence variants in patients affected by amyloidosis show transthyretin instability by isoelectric focusing. Amyloid. 2019;26(2):85–93.
   PubMed Web of Science ®Google Scholar
• Reilly MM, Staunton H, Harding AE. Familial amyloid polyneuropathy (TTR ala 60) in North West Ireland: a clinical, genetic, and epidemiological study. J Neurol Neurosurg Psychiatry. 1995;59(1):45–49.
   PubMed Web of Science ®Google Scholar
• 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(9):1120–1127.
   PubMed Web of Science ®Google Scholar
• Staunton H, Davis MB, Guiloff RJ, et al. Irish (Donegal) amyloidosis is associated with the transthyretinALA60 (Appalachian) variant. Brain. 1991;114(6):2675–2679.
   PubMed Web of Science ®Google Scholar
• Uemichi T, Murrell JR, Zeldenrust S, et al. A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. J Med Genet. 1992;29(12):888–891.
   PubMed Web of Science ®Google Scholar
• Nakamura M, Yamashita T, Ando Y, et al. Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay. Hum Hered. 1999;49(4):186–189.
   PubMed Web of Science ®Google Scholar
• Almeida MR, Hesse A, Steinmetz A, et al. Transthyretin leu 68 in a form of cardiac amyloidosis. Basic Res Cardiol. 1991;86(6):567–571.
   PubMed Web of Science ®Google Scholar
• Kristen AV, Ehlermann P, Helmke B, et al. Transthyretin valine-94-alanine, a novel variant associated with late-onset systemic amyloidosis with cardiac involvement. Amyloid. 2007;14(4):283–287.
   PubMed Web of Science ®Google Scholar
• Jacobson DR, Alexander AA, Tagoe C, et al. Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans. Amyloid. 2015;22(3):171–174.
   PubMed Web of Science ®Google Scholar
• Waddington-Cruz M, Schmidt H, Botteman MF, et al. Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series. Orphanet J Rare Dis. 2019;14(1):34.
   PubMed Web of Science ®Google Scholar
• Sekijima Y, Ueda M, Koike H, et al. Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm. Orphanet J Rare Dis. 2018;13(1):6.
   PubMed Web of Science ®Google Scholar
• Mazzeo A, Russo M, Di Bella G, et al. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP): a single-center experience in Sicily, an Italian endemic area. J Neuromuscul Dis. 2015;2(s2):S39–S48.
   PubMedGoogle Scholar
• Meng LC, Lyu H, Zhang W, et al. Hereditary transthyretin amyloidosis in eight Chinese families. Chin Med J. 2015;128(21):2902–2905.
   PubMed Web of Science ®Google Scholar
• Gonzalez-Duarte A, Valdés-Ferrer SI, Cantú-Brito C. Characteristics and natural history of autonomic involvement in hereditary ATTR amyloidosis: a systematic review. Clin Auton Res. 2019;29(Suppl 1):1–9.
   PubMed Web of Science ®Google 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(5):479–485.
   PubMed Web of Science ®Google Scholar