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 91 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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RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.
 

Author(s): Xiao-Ping Qi, Jian-Qiang Zhao, Zhen-Guang Chen, Jin-Lin Cao, Juan Du, Nai-Fang Liu, Feng Li, Mao Sheng, Er Fu, Jian Guo, Hong Jia, Yi-Ming Zhang, Ju-Ming Ma

Journal: Oncotarget. 2015 Oct;6(32):33993-4003.

 

There are no reports on the relationship between familial medullary thyroid carcinoma (FMTC) associated with cutaneous amyloidosis (CA) and RET or OSMR/IL31RA gene mutations. In this study, we investigated a Chinese family with FMTC/CA and found a recurrent RET c.2671T>G (p.S891A) ...

Last Updated: 30 Oct 2015

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Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR.
 

Author(s): Abdul Wali, Lu Liu, Takuya Takeichi, Musharraf Jelani, Obaid Ur Rahman, Yee Kiat Heng, Steven Thng, Joyce Lee, Masashi Akiyama, John A McGrath, Regina C Betz

Journal: Acta Derm. Venereol.. 2015 Nov;95(8):1005-7.

 

Last Updated: 4 Nov 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 5 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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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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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: 8 Jun 2016

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Study of SOM0226 in Familial Amyloid Polyneuropathy
 

Status: Recruiting

Condition Summary: Familial Amyloid Polyneuropathy (FAP)

 

Last Updated: 19 May 2015

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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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