Familial amyloidosis medical therapy

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Roukoz A. Karam, M.D.[2]


The optimal therapy for familial amyloidosis is removal of the source of abnormal TTR production.

Medical Therapy

  • The mainstay of treatment for familial amyloidosis is removal of the source of abnormal TTR production.
  • Newer therapies have been studies and asses in clinical trials.The need for better therapies has resulted in the development of a number of novel strategies, and some of these have been assessed in clinical trials. These therapies may slow or halt progression of familial ATTR amyloidosis.
    • Tafamidis
      • 2-(3,5–dichloro–phenyl)-benzox-azole-6-carboxylic acid is an orally administered drug that acts to stabilize the TTR tetramer through its affinity for the T4-binding site, and it does not carry the risks associated with nonsteroidal anti-inflammatory drug use.[1]
      • Recently approved for familial amyloid polyneuropathy (FAP) in Europe.[2]
      • This agent is being tested in ongoing trials for other forms of ATTR.
    • Patisiran and Inoteresen
      • are TTR gene silencers. Recently FDA approved their use for ATTRm amyloidosis with peripheral neuropathy.[3]
    • Diflunisal
      • Nonsteroidal anti-inflammatory drug that stabilizes tetrameric TTR in vitro by binding via the thyroid hormone receptor sites.
    • Epigallocathechin-3-gallate[4]
      • Recent in vitro experiments show that 50μmol/l epigallocatechin-3-gallate, the most abundant catechin in green tea (GT), efficiently inhibits fibril formation from amyloid β-protein, α-synucleine, and TTR.
      • Converts existing fibrils into nonfibril conformers.
  • Genetic counseling is recommended for individuals with hereditary amyloidosis and their family members.


  1. Bulawa CE, Connelly S, Devit M, Wang L, Weigel C, Fleming JA; et al. (2012). "Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade". Proc Natl Acad Sci U S A. 109 (24): 9629–34. doi:10.1073/pnas.1121005109. PMC 3386102. PMID 22645360.
  2. Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M; et al. (2018). "Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy". N Engl J Med. 379 (11): 1007–1016. doi:10.1056/NEJMoa1805689. PMID 30145929.
  3. Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK; et al. (2018). "Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis". N Engl J Med. 379 (1): 22–31. doi:10.1056/NEJMoa1716793. PMID 29972757.
  4. Ferreira N, Cardoso I, Domingues MR, Vitorino R, Bastos M, Bai G; et al. (2009). "Binding of epigallocatechin-3-gallate to transthyretin modulates its amyloidogenicity". FEBS Lett. 583 (22): 3569–76. doi:10.1016/j.febslet.2009.10.062. PMID 19861125.