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Therapeutics and Clinical Risk Management Volume 16, 2020 - Issue
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Review

Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines

M D Benson1 Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USACorrespondence[email protected]
,
N R Dasgupta1 Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA;2 Division of Cardiology, Indiana University School of Medicine, Indianapolis, IN46040, USA
&
R Rao2 Division of Cardiology, Indiana University School of Medicine, Indianapolis, IN46040, USAORCID Iconhttps://orcid.org/0000-0002-1750-389X
ORCID Icon
Pages 749-758 | Published online: 14 Aug 2020

References

  • Benson MD, Buxbaum JN, Esienberg DS, et al. Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid. 2018;25(4):215–219. doi:10.1080/13506129.2018.1549825
  • Thomas VE, Smith J, Benson MD. Amyloidosis: diagnosis and new therapies for a misunderstood and underdiagnosed disease. Neurodegener Dis Manag. 2019;9(6). doi:10.2217/nmt-2019-0020
  • Maurer MS, Bokhari S, Dorbala S, et al. Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis. Circ Heart Fail. 2019;12(9). doi:10.1161/CIRCHEARTFAILURE.119.006075.
  • Wittles RM, Bokhari S, Thibaud D, et al. Screening for transthyretin amyloid cardiomyopathy in everyday practice. J Am Coll Cardiol HF. 2019;7:709–716.
  • Adams D, Ando Y, Melo Beirao J, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. 2020. doi:10.1007/s00415-019-09688-0
  • Gonzalez-Lopez E, Gallego-Delgado M, Guzzo-Merello G. Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J. 2015;36(38):2585–2594. doi:10.1093/eurheartj/ehv338
  • Ternacle J, Krapf L, Mohty D, et al. Aortic stenosis and cardiac amyloidosis. JACC. 2019;74(21):2638–2651. doi:10.1016/j.jacc.2019.09.056
  • Carvalho A, Rocha A, Lobato L. Liver Transplantation in transthyretin amyloidosis: issues and challenges. Liver Transpl. 2015;21(3):282–292. doi:10.1002/lt.24058
  • Sousa M, Mohan G, Guglin M, et al. Heart transplantation in cardiac amyloidosis. Heart Fail Rev. 2017;22:317–327. doi:10.1007/s10741-017-9601-z
  • Adams D, Gonzalez-Duarte A, O’Riordan WD, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. NEJM. 2018;379:11–21. doi:10.1056/NEJMoa1716153
  • Benson MD, Waddington-Cruz M, Berk JL, et al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. NEJM. 2018;379:22–31. doi:10.1056/NEJMoa1716793
  • Solomon SD, Adams D, Kristen A, et al. Effects of patisiran, an RNA interference therapeutic, on cardiac parameters in patients with hereditary transthyretin-mediated amyloidosis. Circulation. 2019;139(4):431–443. doi:10.1161/CIRCULATIONAHA.118.035831
  • Dasgupta NR, Rissing SM, Smith J, et al. Inotersen therapy of transthyretin amyloid cardiomyopathy. Amyloid. 2020;27(1):52–58. doi:10.1080/13506129.2019.1685487
  • Judge DP, Kristin AV, Grogen M, et al. Phase 3 multicenter study of revusiran in patients with hereditary transthyretin-mediated (hATTR) amyloidosis with cardiomyopathy. Cardiovasc Drugs Ther. 2020;1–14.
  • Janas MM, Zlatev L, Liu J, et al. Safety of 2ʹ-deoxy-2ʹ-flouro nucleotides in GalNAc-siRNA conjugates. Nucleic Acids Res. 2019;47(7):3306–3320. doi:10.1093/nar/gkz140
  • Maurer MS, Schwartz JH, Gundapaneni MS, et al. Tafamidis treatment for patients with Transthyretin Amyloid Cardiomyopathy. NEJM. 2018;379(11):1007–1016. doi:10.1056/NEJMoa1805689
  • Kazi DS, Bellows BK, Baron SJ, et al. Cost-effectiveness of tafamidis for transthyretin amyloid cardiomyopathy. Circulation. 2020;141(15):1214–1224. doi:10.1161/CIRCULATIONAHA.119.045093
  • Berk JL, Suhr OB, Obici L, et al. Repurposing diflunisal for familial amyloid polyneuropathy. JAMA. 2013;310(24):2658–2667. doi:10.1001/jama.2013.283815
  • Graham L, Pipilas A, Mussinelli R, et al. Stabilization of cardiac function with diflunisal in transthyretin (ATTR) cardiac amyloidosis. J Card Fail. 2019.
  • Schwarzlow C, Kazamel M. Hereditary transthyretin amyloidosis: clinical presentation and management updates. J Clin Neuromuscul Dis. 2020;21:144–156. doi:10.1097/CND.0000000000000270
  • Coelho T, Maia LF, da Silva A. Tafamidis for transthyretin familial polyneuropathy: a randomized controlled trial. Neurology. 2012;79(8):785–792. doi:10.1212/WNL.0b013e3182661eb1
  • Waddington Cruz M, Benson MD. A review of tafamidis for the treatment of transthyretin- related amyloidosis. Neurol Ther. 2015;4(2):61–79. doi:10.1007/s40120-015-0031-3

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