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

Prediction of long-term survival after liver transplantation for familial transthyretin amyloidosis.
 

Author(s): Vincent Algalarrondo, Teresa Antonini, Marie Théaudin, Béatrice Ducot, Pierre Lozeron, Denis Chemla, Anouar Benmalek, Catherine Lacroix, Daniel Azoulay, Denis Castaing, Cécile Cauquil, François Rouzet, Sylvie Dinanian, Ludivine Eliahou, Dominique Le Guludec, Didier Samuel, Michel S Slama, David Adams

Journal: J. Am. Coll. Cardiol.. 2015 Nov;66(19):2154-6.

 

Last Updated: 6 Nov 2015

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Tocilizumab in the treatment of patients with AA amyloidosis secondary to familial Mediterranean fever.
 

Author(s): Sedat Yilmaz, Muhammet Cinar, Ismail Simsek, Hakan Erdem, Salih Pay

Journal: Rheumatology (Oxford). 2015 Mar;54(3):564-5.

 

Last Updated: 20 Feb 2015

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Endothelial function in patients with familial Mediterranean fever-related amyloidosis and association with cardiovascular events.
 

Author(s): Mahmut I Yilmaz, Erkan Demirkaya, Cengizhan Acikel, Mehmet Saldir, Servet Akar, Tuncer Cayci, Mutlu Saglam, Hilmi U Unal, Mahmut Gok, Adem Polat, Hakkı Cetinkaya, Tayfun Eyileten, Sebahattin Sari, Ali O Yildirim, Alper Sonmez, Yusuf Oguz, Abdulgaffar Vural, Seza Ozen, Juan Jesús Carrero

Journal: Rheumatology (Oxford). 2014 Nov;53(11):2002-8.

 

Secondary amyloidosis is the most important complication of FMF and endothelial function is more severely impaired. Elevated asymmetric dimethyl arginine (ADMA) may mediate the excess cardiovascular disease (CVD) risk of this group. We aimed to compare endothelial function characteristics, ...

Last Updated: 21 Oct 2014

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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:

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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Clinical improvement with infliximab in a child with amyloidosis secondary to familial Mediterranean fever.
 

Author(s): S Yüksel, F Yalçinkaya, B Acar, Z B Ozçakar, B Oztürk, M Ekim

Journal: Rheumatology (Oxford). 2006 Oct;45(10):1307-8.

 

Last Updated: 25 Sep 2006

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Glomerular lesions other than amyloidosis in patients with familial Mediterranean fever.
 

Author(s): F Yalçinkaya, N Tümer

Journal: Nephrol. Dial. Transplant.. 1999 Jan;14(1):21-3.

 

Last Updated: 4 May 1999

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Symptoms, Diagnosis, and Treatment

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There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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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: 8 Jun 2016

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The Study of an Investigational Drug, Revusiran (ALN-TTRSC), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Patients Whose Disease Has Continued to Worsen Following Liver Transplant
 

Status: Recruiting

Condition Summary: Transthyretin (TTR)-Mediated Amyloidosis; Familial Amyloidotic Polyneuropathy (FAP); ATTR Amyloidosis; Familial Amyloid Neuropathies

 

Last Updated: 4 Dec 2015

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ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)
 

Status: Recruiting

Condition Summary: Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC); Amyloidosis, Hereditary; Amyloid Neuropathies, Familial; Amyloid Neuropathies; Amyloidosis, Hereditary, Transthyretin-Related; Familial Transthyretin Cardiac Amyloidosis

 

Last Updated: 12 Feb 2016

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