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.

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

Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report.
 

Author(s): Ramón Peces, Sara Afonso, Carlos Peces, Julián Nevado, Rafael Selgas

Journal:

 

Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to familial Mediterranean fever can lead to end-stage renal disease, culminating ...

Last Updated: 1 Sep 2017

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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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Mutational Spectrum of the MEFV Gene in AA Amyloidosis Associated With Familial Mediterranean Fever.
 

Author(s): Ayse Feyda Nursal, Akin Tekcan, Suheyla Uzun Kaya, Ercan Turkmen, Serbulent Yigit

Journal: Iran J Kidney Dis. 2016 May;10(3):107-12.

 

Familial Mediterranean fever (FMF) is a recessively inherited disease which is characterized by recurrent episodic fever, abdominal pain, and polyserositis. It is caused by mutations in the MEFV gene, encoding the pyrin protein. The most important complication of FMF is secondary ...

Last Updated: 26 May 2016

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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 3 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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[A case of emphysematous cystitis with familial amyloidosis].
 

Author(s): H Oka, T Hatayama, Y Taki, S Hida, H Ueyama, Y Komatz, J Hujitake, Y Tachioka, A Takasu

Journal: Hinyokika Kiyo. 1991 Jul;37(7):759-63.

 

This is a report of the thirteenth known case in Japan of emphysematous cystitis. A 70-year-old man visited our hospital because of pollakisuria and macrohematuria on November 21, 1989. The patient had been known to have familiar amyloid polyneuropathy for the previous 3 years. Urinalysis ...

Last Updated: 13 Nov 1991

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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: Not yet recruiting

Condition Summary: Familial Amyloid Neuropathy; Transthyretin Amyloidosis

 

Last Updated: 14 Jun 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: 29 Jun 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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