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 85 free, full-text research articles on human participants. First 3 results:

Treatment of transthyretin familial amyloid polyneuropathy with tafamidis: a case report.
 

Author(s): Yoshimichi Miyazaki

Journal: Nihon Ronen Igakkai Zasshi. 2017 ;54(1):75-80.

 

Familial amyloid polyneuropathy (FAP) is a rare hereditary disorder caused by mutations in the transthyretin (TTR) gene. Tafamidis is a TTR stabilizer able to prevent TTR tetramer dissociation, and several studies have demonstrated its safety and efficacy at slowing the progression ...

Last Updated: 31 Dec 1969

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An Isolated Case of Late-onset Amyloidogenic Transthyretin Type Familial Amyloid Polyneuropathy Associated with a Mutant Transthyretin Substituting Methionine for Valine at Position 30 Showing Latent Progressive Cardiac Involvement Confirmed by Serial Annual Electrocardiograms.
 

Author(s): Chikako Sato, Tomofumi Takaya, Shumpei Mori, Kohei Hasegawa, Fumitaka Soga, Hidekazu Tanaka, Yoshiaki Watanabe, Tatsuya Nishii, Atsushi K Kono, Yukiko Morinaga, Hatsue Ishibashi-Ueda, Ken-Ichi Hirata

Journal: Intern. Med.. 2017 ;56(2):163-168.

 

Late-onset amyloidogenic transthyretin (ATTR) type familial amyloid polyneuropathy (FAP) shows features distinct from those of early-onset hereditary ATTR type FAP. We herein describe an asymptomatic 68-year-old man with late-onset ATTR type FAP whose serial annual electrocardiograms ...

Last Updated: 31 Dec 1969

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Involvement of Macrophages in the Pathogenesis of Familial Amyloid Polyneuropathy and Efficacy of Human iPS Cell-Derived Macrophages in Its Treatment.
 

Author(s): Genki Suenaga, Tokunori Ikeda, Yoshihiro Komohara, Koutaro Takamatsu, Tatsuyuki Kakuma, Masayoshi Tasaki, Yohei Misumi, Mitsuharu Ueda, Takaaki Ito, Satoru Senju, Yukio Ando

Journal:

 

We hypothesized that tissue-resident macrophages in familial amyloid polyneuropathy (FAP) patients will exhibit qualitative or quantitative abnormalities, that may accelerate transthyretin (TTR)-derived amyloid deposition. To evaluate this, we examined the number and subset of tissue-resident ...

Last Updated: 31 Dec 1969

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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 6 free, full-text review articles on human participants. First 3 results:

First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy.
 

Author(s): David Adams, Ole B Suhr, Ernst Hund, Laura Obici, Ivailo Tournev, Josep M Campistol, Michel S Slama, Bouke P Hazenberg, Teresa Coelho,

Journal: Curr. Opin. Neurol.. 2016 Feb;29 Suppl 1():S14-26.

 

Early and accurate diagnosis of transthyretin familial amyloid polyneuropathy (TTR-FAP) represents one of the major challenges faced by physicians when caring for patients with idiopathic progressive neuropathy. There is little consensus in diagnostic and management approaches across Europe.

Last Updated: 31 Dec 1969

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Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.
 

Author(s): Yesim Parman, David Adams, Laura Obici, Lucía Galán, Velina Guergueltcheva, Ole B Suhr, Teresa Coelho,

Journal: Curr. Opin. Neurol.. 2016 Feb;29 Suppl 1():S3-S13.

 

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a highly disabling, life-threatening disease characterized by progressive sensorimotor and autonomic neuropathy. The profile of the disease across Europe is inadequately understood at present.

Last Updated: 31 Dec 1969

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"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy.
 

Author(s): Isabel Conceição, Alejandra González-Duarte, Laura Obici, Hartmut H-J Schmidt, Damien Simoneau, Moh-Lim Ong, Leslie Amass

Journal: J. Peripher. Nerv. Syst.. 2016 Mar;21(1):5-9.

 

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, progressive, life-threatening, hereditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin-derived amyloid fibrils in peripheral and autonomic nerves, ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology
 

Status: Recruiting

Condition Summary: Familial Amyloid Neuropathy; Transthyretin Amyloidosis

 

Last Updated: 17 Nov 2017

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Mitochondrial Function in Transthyretin Amyloidosis
 

Status: Not yet recruiting

Condition Summary: Cardiac Amyloidosis

 

Last Updated: 28 Oct 2017

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Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR)
 

Status: Available

Condition Summary: TTR-mediated Amyloidosis; Amyloidosis, Hereditary; Amyloid Neuropathies, Familial; Familial Amyloid Polyneuropathies; Amyloid Neuropathies; Amyloidosis, Hereditary, Transthyretin-Related

 

Last Updated: 22 Nov 2017

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