Amyloidosis Familial

Common Name(s)

Amyloidosis Familial

The common type of inherited amyloidosis is caused by a mutation in the transthyretin (TTR) gene. The protein deposits as amyloid fibrils. Symptoms of disease include neuropathy, orthostatic hypotension, and cardiomyopathy. ATTR is found in many ethnic groups. More than 100 different mutations are known. Treatment is a liver transplant. New drugs are in clinical trials. Other rare mutations include apolipoprotein A-I (apolipoprotein A-II, gelsolin, fibrinogen, and lysozyme.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Amyloidosis Familial" 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 "Amyloidosis Familial" returned 81 free, full-text research articles on human participants. First 3 results:

Secondary bladder amyloidosis with familial Mediterranean fever in a living donor kidney transplant recipient: a case report.
 

Author(s): Sentaro Imamura, Shintaro Narita, Ryuta Nishikomori, Hiroshi Tsuruta, Kazuyuki Numakura, Atsushi Maeno, Mitsuru Saito, Takamitsu Inoue, Norihiko Tsuchiya, Hiroshi Nanjo, Toshio Heike, Shigeru Satoh, Tomonori Habuchi

Journal:

 

Secondary bladder amyloidosis is an extremely rare disease, resulting from a chronic systematic inflammatory disorder associated with amyloid deposits. Although uncommon in Japan, familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent ...

Last Updated: 20 Oct 2016

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Association between a point mutation at the -743-bp region of the transthyretin (TTR) gene and familial vitreous amyloidosis.
 

Author(s): X M Nie, S J Cai, B Xie, X W Chen, M Jiang

Journal:

 

The aim of this study was to identify changes in the base sequence of the upstream regulatory region of the transthyretin (TTR) gene. Whole-blood DNA was extracted from ten subjects belonging to a family with familial amyloidosis vitreoretinopathy; the upstream regulatory sequence ...

Last Updated: 7 Apr 2016

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Role of (99m)Tc-DPD scintigraphy on discrimination of familial cardiac amyloidosis.
 

Author(s): Suzane Garcia Ferreira, Alexandre Marins Rocha, Osvaldo José Moreira do Nascimento, Claudio Tinoco Mesquita

Journal: Int. J. Cardiol.. 2016 Jan;203():885-7.

 

Last Updated: 22 Dec 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 "Amyloidosis Familial" returned 2 free, full-text review articles on human participants. First 3 results:

Familial amyloidosis: great progress for an orphan disease.
 

Author(s): Ana Paula Barreiros, Gerd Otto, Bita Kahlen, Andreas Teufel, Peter R Galle

Journal: J. Hepatol.. 2015 Feb;62(2):483-5.

 

Last Updated: 19 Jan 2015

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Technetium pyrophosphate myocardial uptake and peripheral neuropathy in a rare variant of familial transthyretin (TTR) amyloidosis (Ser23Asn): a case report and literature review.
 

Author(s): Adam Castaño, Sabahat Bokhari, Thomas H Brannagan, Julia Wynn, Mathew S Maurer

Journal: Amyloid. 2012 Mar;19(1):41-6.

 

We report the fourth case of transthyretin amyloidosis (ATTR) Ser23Asn in a 41-year-old Ecuadorian male. He has a pedigree that spans seven generations and involves 24 family members who suffered early cardiac death. Salient presenting symptoms were fatigue, shortness of breath, and ...

Last Updated: 20 Feb 2012

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Safety and Tolerability Study of an Investigational Drug, ALN-TTRSC02, in Healthy Subjects
 

Status: Recruiting

Condition Summary: Transthyretin-mediated Amyloidosis (ATTR Amyloidosis)

 

Last Updated: 10 Feb 2017

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Biomarker for Patients With Transthyretin-Related Familial Amyloidotic Polyneuropathy
 

Status: Recruiting

Condition Summary: Metabolic Diseases; Amyloid Neuropathies; Amyloidosis, Familial; Polyneuropathies

 

Last Updated: 19 Sep 2016

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Transthyretin-Associated Amyloidoses Outcome Survey (THAOS)
 

Status: Recruiting

Condition Summary: Transthyretin Mutations; Transthyretin Amyloidosis

 

Last Updated: 31 Jan 2017

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