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

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

Is neutrophil/lymphocyte ratio associated with subclinical inflammation and amyloidosis in patients with familial Mediterranean fever?
 

Author(s): Ali Ugur Uslu, Koksal Deveci, Serdal Korkmaz, Bahattin Aydin, Soner Senel, Enver Sancakdar, Mehmet Sencan

Journal: Biomed Res Int. 2013 ;2013():185317.

 

The purpose of the present study is to determine the association between neutrophil/lymphocyte ratio and both subclinical inflammation and amyloidosis in familial Mediterranean fever.

Last Updated: 18 Jul 2013

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(99m)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses.
 

Author(s): Sabahat Bokhari, Adam Castaño, Ted Pozniakoff, Susan Deslisle, Farhana Latif, Mathew S Maurer

Journal: Circ Cardiovasc Imaging. 2013 Mar;6(2):195-201.

 

Differentiating immunoglobulin light-chain (AL) from transthyretin-related cardiac amyloidoses (ATTR) is imperative given implications for prognosis, therapy, and genetic counseling. We validated the discriminatory ability of (99m)Tc-pyrophosphate ((99m)Tc-PYP) scintigraphy in AL versus ATTR.

Last Updated: 20 Mar 2013

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MCP-1 as an effector of IL-31 signaling in familial primary cutaneous amyloidosis.
 

Author(s): Yu-Ming Shiao, Hsiang-Ju Chung, Chih-Chiang Chen, Keng-Nan Chiang, Yun-Ting Chang, Ding-Dar Lee, Ming-Wei Lin, Shih-Feng Tsai, Isao Matsuura

Journal: J. Invest. Dermatol.. 2013 May;133(5):1375-8.

 

Last Updated: 18 Apr 2013

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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:

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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Familial Mediterranean fever: from inflammation to amyloidosis.
 

Author(s): G Grateau

Journal: Nephrol. Dial. Transplant.. 1998 Aug;13(8):1919-20.

 

Last Updated: 6 Nov 1998

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Symptoms, Diagnosis, and Treatment

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

Safety and Effect of Doxycycline in Patients With Amyloidosis
 

Status: Recruiting

Condition Summary: Amyloidosis

 

Last Updated: 12 May 2013

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Tolerability and Efficacy of a Combination of Doxycycline and TUDCA in Patients With Transthyretin Amyloid Cardiomyopathy
 

Status: Recruiting

Condition Summary: Amyloidosis; Heart (Manifestation); Senile Cardiac Amyloidosis

 

Last Updated: 19 Nov 2013

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Efficacy and Safety of ISIS-TTR Rx in Familial Amyloid Polyneuropathy
 

Status: Recruiting

Condition Summary: FAP; Familial Amyloid Polyneuropathy; TTR; Transthyretin; Amyloidosis

 

Last Updated: 10 Oct 2014

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