Familial amyloidosis medical therapy: Difference between revisions
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**The liver is the dominant source of transthyretin; hence, in patients with less advanced disease, liver transplant may be performed. | **The liver is the dominant source of transthyretin; hence, in patients with less advanced disease, liver transplant may be performed. | ||
**Patients with severe heart involvement may benefit from a heart transplant. | **Patients with severe heart involvement may benefit from a heart transplant. | ||
* | *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 is | **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. | |||
***A drug 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 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> | **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> | ||
**Diflunisal is a nonsteroidal anti-inflammatory drug that stabilizes tetrameric TTR ''in vitro'' by binding via the thyroid hormone receptor sites | |||
*Genetic counseling is recommended for individuals with hereditary amyloidosis and their family members. | *Genetic counseling is recommended for individuals with hereditary amyloidosis and their family members. | ||
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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
Medical Therapy
- The optimal therapy for familial amyloidosis is removal of the source of abnormal TTR production.
- The liver is the dominant source of transthyretin; hence, in patients with less advanced disease, liver transplant may be performed.
- Patients with severe heart involvement may benefit from a heart transplant.
- 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.
- A drug recently approved for familial amyloid polyneuropathy (FAP) in Europe.[1]
- 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.[2]
- Diflunisal is a nonsteroidal anti-inflammatory drug that stabilizes tetrameric TTR in vitro by binding via the thyroid hormone receptor sites
- Tafamidis
- Genetic counseling is recommended for individuals with hereditary amyloidosis and their family members.
References
- ↑ 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.