Familial amyloidosis medical therapy: Difference between revisions
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**Since the [[liver]] is the dominant source of [[transthyretin]], liver transplant is considered in [[patients]] with less advanced [[disease]]. | **Since the [[liver]] is the dominant source of [[transthyretin]], liver transplant is considered in [[patients]] with less advanced [[disease]]. | ||
**Patients with severe [[Heart|cardiac]] complications may benefit from a [[heart transplant]]. | **Patients with severe [[Heart|cardiac]] complications may benefit from a [[heart transplant]]. | ||
*Newer therapies have been | *Newer therapies have been studied and assessed in [[clinical trials]]. These [[Therapy|therapies]] may slow or halt progression of familial ATTR amyloidosis. | ||
**Tafamidis | **[[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.<ref name="pmid22645360">{{cite journal| author=Bulawa CE, Connelly S, Devit M, Wang L, Weigel C, Fleming JA et al.| title=Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. | journal=Proc Natl Acad Sci U S A | year= 2012 | volume= 109 | issue= 24 | pages= 9629-34 | pmid=22645360 | doi=10.1073/pnas.1121005109 | pmc=3386102 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22645360 }}</ref> | ***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.<ref name="pmid22645360">{{cite journal| author=Bulawa CE, Connelly S, Devit M, Wang L, Weigel C, Fleming JA et al.| title=Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. | journal=Proc Natl Acad Sci U S A | year= 2012 | volume= 109 | issue= 24 | pages= 9629-34 | pmid=22645360 | doi=10.1073/pnas.1121005109 | pmc=3386102 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22645360 }}</ref> | ||
***Recently approved for familial amyloid polyneuropathy (FAP) in Europe.<ref name="pmid301459292">{{cite journal| author=Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M et al.| title=Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. | journal=N Engl J Med | year= 2018 | volume= 379 | issue= 11 | pages= 1007-1016 | pmid=30145929 | doi=10.1056/NEJMoa1805689 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30145929 }}</ref> | ***Recently approved for familial amyloid polyneuropathy (FAP) in Europe.<ref name="pmid301459292">{{cite journal| author=Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M et al.| title=Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. | journal=N Engl J Med | year= 2018 | volume= 379 | issue= 11 | pages= 1007-1016 | pmid=30145929 | doi=10.1056/NEJMoa1805689 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30145929 }}</ref> | ||
***This agent is being tested in ongoing trials for other forms of ATTR. | ***This agent is being tested in ongoing trials for other forms of ATTR. | ||
**Patisiran and Inoteresen | **[[Patisiran]] and Inoteresen | ||
***are TTR gene silencers. Recently FDA approved their use for ATTRm amyloidosis with peripheral neuropathy.<ref name="pmid29972757">{{cite journal| author=Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK et al.| title=Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. | journal=N Engl J Med | year= 2018 | volume= 379 | issue= 1 | pages= 22-31 | pmid=29972757 | doi=10.1056/NEJMoa1716793 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29972757 }}</ref> | ***are TTR gene silencers. Recently FDA approved their use for ATTRm amyloidosis with peripheral neuropathy.<ref name="pmid29972757">{{cite journal| author=Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK et al.| title=Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. | journal=N Engl J Med | year= 2018 | volume= 379 | issue= 1 | pages= 22-31 | pmid=29972757 | doi=10.1056/NEJMoa1716793 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29972757 }}</ref> | ||
**Diflunisal | **[[Diflunisal]] | ||
***Nonsteroidal anti-inflammatory drug that stabilizes tetrameric TTR ''in vitro'' by binding via the thyroid hormone receptor sites. | ***Nonsteroidal anti-inflammatory drug that stabilizes tetrameric TTR ''in vitro'' by binding via the thyroid hormone receptor sites. | ||
**Epigallocathechin-3-gallate<ref name="pmid19861125">{{cite journal| author=Ferreira N, Cardoso I, Domingues MR, Vitorino R, Bastos M, Bai G et al.| title=Binding of epigallocatechin-3-gallate to transthyretin modulates its amyloidogenicity. | journal=FEBS Lett | year= 2009 | volume= 583 | issue= 22 | pages= 3569-76 | pmid=19861125 | doi=10.1016/j.febslet.2009.10.062 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19861125 }}</ref> | **Epigallocathechin-3-gallate<ref name="pmid19861125">{{cite journal| author=Ferreira N, Cardoso I, Domingues MR, Vitorino R, Bastos M, Bai G et al.| title=Binding of epigallocatechin-3-gallate to transthyretin modulates its amyloidogenicity. | journal=FEBS Lett | year= 2009 | volume= 583 | issue= 22 | pages= 3569-76 | pmid=19861125 | doi=10.1016/j.febslet.2009.10.062 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19861125 }}</ref> | ||
Revision as of 18:43, 4 November 2019
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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]
Overview
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.
- Since the liver is the dominant source of transthyretin, liver transplant is considered in patients with less advanced disease.
- Patients with severe cardiac complications may benefit from a heart transplant.
- Newer therapies have been studied and 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.
- Tafamidis
- Genetic counseling is recommended for individuals with hereditary amyloidosis and their family members.
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.