Familial Amyloid Polyneuropathy

Common Name(s)

Familial Amyloid Polyneuropathy

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial Amyloid Polyneuropathy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial Amyloid Polyneuropathy" returned 82 free, full-text research articles on human participants. First 3 results:

[Presentations of transthyretin associated familial amyloid polyneuropathy in Argentina].
 

Author(s): Marcelo Chaves, Mariela Bettini, Sebastián Marciano, Soledad Sáez, Edgardo Cristiano, Marcelo Rugiero

Journal: Medicina (B Aires). 2016 ;76(2):105-8.

 

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a hereditary disease with variable geographical distribution. The aim of this study was to present our experience with TTR-FAP patients. We retrospectively analyzed nine cases belonging to different families. Diagnostic ...

Last Updated: 4 May 2016

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Endoscopic Findings of Small-Bowel Lesions in Familial Amyloid Polyneuropathy: A Case Report.
 

Author(s): Kensuke Asakura, Shunichi Yanai, Shotaro Nakamura, Keisuke Kawaski, Makoto Eizuka, Kazuyuki Ishida, Tamotsu Sugai, Mitsuharu Ueda, Taro Yamashita, Yukio Ando, Takayuki Matsumoto

Journal: Medicine (Baltimore). 2016 Mar;95(11):e2896.

 

Familial amyloid polyneuropathy (FAP) is an autosomal dominant disease associated with the mutations in the transthyretin gene. To date, the endoscopic findings of the small-bowel lesions of FAP have never been described. We report a rare case of FAP with gastrointestinal involvement. ...

Last Updated: 18 Mar 2016

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The Temporal Profiles of Changes in Nerve Excitability Indices in Familial Amyloid Polyneuropathy.
 

Author(s): Hsing-Jung Lai, Ya-Wen Chiang, Chih-Chao Yang, Sung-Tsang Hsieh, Chi-Chao Chao, Ming-Jen Lee, Chung-Chin Kuo

Journal:

 

Familial amyloid polyneuropathy (FAP) caused by a mutation in transthyretin (TTR) gene is an autosomal dominant inherited disorder. The aim of this study is to explore the pathophysiological mechanism of FAP. We prospectively recruited 12 pauci-symptomatic carriers, 18 patients who ...

Last Updated: 4 Nov 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial Amyloid Polyneuropathy" returned 3 free, full-text review articles on human participants. First 3 results:

Ocular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review.
 

Author(s): A C Martins, A M Rosa, E Costa, C Tavares, M J Quadrado, J N Murta

Journal: Biomed Res Int. 2015 ;2015():282405.

 

This paper aims to review the morphological and functional characteristics of patients affected by familial amyloid polyneuropathy (FAP), with greater focus on type I and its progression after liver transplantation. We also analyse therapeutic options for the ophthalmic manifestations.

Last Updated: 11 Nov 2015

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[Ocular involvement in familial amyloid polyneuropathy].
 

Author(s): A Rousseau, G Kaswin, D Adams, C Cauquil, M Théaudin, Z Mincheva, M M'garrech, M Labetoulle, E Barreau

Journal: J Fr Ophtalmol. 2013 Nov;36(9):779-88.

 

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adult onset, which is transmitted as an autosomal dominant trait. In addition to neurologic symptoms, FAP may be associated with weight loss, ...

Last Updated: 4 Nov 2013

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A case of familial amyloid polyneuropathy due to Phe33Val TTR with vitreous involvement as the initial manifestation.
 

Author(s): Syoichiro Kono, Yasuhiro Manabe, Tomotaka Tanaka, Daiki Fujii, Yasuko Sakai, Hisashi Narai, Nobuhiko Omori, Mitsuharu Ueda, Yukio Ando, Koji Abe

Journal: Intern. Med.. 2010 ;49(12):1213-6.

 

We report a 61-year-old Japanese woman with transthyretin (TTR) Val33-related familial amyloid polyneuropathy (FAP). She presented with late-onset, vitreous involvement as the initial manifestation, slow development of polyneuropathy, cardiomyopathy, and severe autonomic failure without ...

Last Updated: 18 Jun 2010

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of SOM0226 in Familial Amyloid Polyneuropathy
 

Status: Recruiting

Condition Summary: Familial Amyloid Polyneuropathy (FAP)

 

Last Updated: 19 May 2015

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Transthyretin-Associated Amyloidoses Outcome Survey (THAOS)
 

Status: Recruiting

Condition Summary: Transthyretin Mutations; Transthyretin Amyloidosis

 

Last Updated: 6 Sep 2016

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Carpal Tunnel Syndrome and Amyloid Cardiomyopathy
 

Status: Recruiting

Condition Summary: Amyloidosis; Cardiomyopathy; Transthyretin Amyloidosis; Senile Systemic Amyloidosis; Carpal Tunnel Syndrome

 

Last Updated: 21 Sep 2016

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