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

Association of amyloidosis cutis dyschromica and familial Mediterranean fever.
 

Author(s): Asli Akin Belli, Asude Kara, Yelda Dere, Nevin Yilmaz

Journal: An Bras Dermatol. 2017 ;92(5 Suppl 1):21-23.

 

Amyloidosis cutis dyschromica is a rare type of primary cutaneous amyloidosis characterized by reticulate hyper-pigmentation with discrete hypopigmented macules. Up to date, about 50 cases of amyloidosis cutis dyschromica have been reported and the majority are familial cases of Asian ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 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 "Amyloidosis Familial" returned 4 free, full-text review articles on human participants. First 3 results:

Tocilizumab in the treatment of twelve cases with aa amyloidosis secondary to familial mediterranean fever.
 

Author(s): Serdal Ugurlu, Aysa Hacioglu, Yasaman Adibnia, Vedat Hamuryudan, Huri Ozdogan

Journal:

 

There is no established treatment of AA amyloidosis, a long-term complication of various chronic inflammatory diseases associated with increased mortality, such as familial Mediterranian fever (FMF). Recently there are few reports pointing out that tocilizumab(TCZ), an anti IL-6 agent ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Expanding the Biomarkers in Familial Amyloid Neuropathy: MRI and Motor Unit Estimation by Electrophysiological Study
 

Status: Not yet recruiting

Condition Summary: Amyloid Neuropathies; Transthyretin Amyloidosis

 

Last Updated: 4 Jul 2018

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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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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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