Amyloidosis

Common Name(s)

Amyloidosis

Amyloidosis is a term for diseases caused by the misfolding of the amyloid protein. Deposits of these insoluble fibrillar proteins build up in tissues and lead to organ disfunction. This is a rare and serious disease. Early and accurate diagnosis is necessary as treatments are specific to the different types. The main types are: AL or "primary"; AA or "secondary"; FAP or "familial" (hereditary); and localized. Evaluation by physicians who specialize in diagnosis and treatment is critical.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Amyloidosis" for support, advocacy or research.

Amyloidosis Support Groups Inc.

• To form Amyloidosis Support Groups where needed and to have all Amyloidosis Support Groups be self-sustaining through donations (general, memorial, note cards and other awareness items) • To fund and maintain libraries of educational materials for all support groups. • To fund group projects that will help in spreading awareness, co-sponsor Amyloidosis treatment and research fundraisers, and encourage grand rounds be held on amyloidosis at local hospitals and help to encourage money be raised for such projects. • To purchase and provide awareness items such as pins, wristbands and other similar items for meetings, memorials, and fundraisers To help finance the annual educational retreat for training new and current group leaders and facilitators • To maintain a 24/7 toll free “Hot/Help Line” to answer all support inquires. • To provide on-going maintenance and informational updates on the A.S.G. web-site ( http://www.amyloidosissupport.com ). • To promote, monitor

Last Updated: 19 Nov 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Amyloidosis" for support, advocacy or research.

Amyloidosis Support Groups Inc.

• To form Amyloidosis Support Groups where needed and to have all Amyloidosis Support Groups be self-sustaining through donations (general, memorial, note cards and other awareness items) • To fund and maintain libraries of educational materials for all support groups. • To fund group projects that will help in spreading awareness, co-sponsor Amyloidosis treatment and research fundraisers, and encourage grand rounds be held on amyloidosis at local hospitals and help to encourage money be raised for such projects. • To purchase and provide awareness items such as pins, wristbands and other similar items for meetings, memorials, and fundraisers To help finance the annual educational retreat for training new and current group leaders and facilitators • To maintain a 24/7 toll free “Hot/Help Line” to answer all support inquires. • To provide on-going maintenance and informational updates on the A.S.G. web-site ( http://www.amyloidosissupport.com ). • To promote, monitor

http://www.amyloidosissupport.com

Last Updated: 19 Nov 2012

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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" returned 1700 free, full-text research articles on human participants. First 3 results:

Prognostic Value of Late Gadolinium Enhancement Cardiovascular Magnetic Resonance in Cardiac Amyloidosis.
 

Author(s): Marianna Fontana, Silvia Pica, Patricia Reant, Amna Abdel-Gadir, Thomas A Treibel, Sanjay M Banypersad, Viviana Maestrini, William Barcella, Stefania Rosmini, Heerajnarain Bulluck, Rabya H Sayed, Ketna Patel, Shameem Mamhood, Chiara Bucciarelli-Ducci, Carol J Whelan, Anna S Herrey, Helen J Lachmann, Ashutosh D Wechalekar, Charlotte H Manisty, Eric B Schelbert, Peter Kellman, Julian D Gillmore, Philip N Hawkins, James C Moon

Journal: Circulation. 2015 Oct;132(16):1570-9.

 

The prognosis and treatment of the 2 main types of cardiac amyloidosis, immunoglobulin light chain (AL) and transthyretin (ATTR) amyloidosis, are substantially influenced by cardiac involvement. Cardiovascular magnetic resonance with late gadolinium enhancement (LGE) is a reference ...

Last Updated: 20 Oct 2015

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Colchicine therapy in amyloidosis related with plasmacytic Castleman disease presenting with nephrotic syndrome.
 

Author(s): Saime Paydas, Semra Paydas, Melek Ergin

Journal: Saudi J Kidney Dis Transpl. 2015 Sep;26(5):992-5.

 

Castleman disease (CD) is a neoplasm that presents with single or multiple lymphadenopathy. The disease is characterized by fever, weight loss, anemia, polyclonal hyperglobulinemia, splenomegaly, thrombocytosis and peripheral lymphadenopathy. In this paper, we report a young man with ...

Last Updated: 10 Sep 2015

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Contribution of Electrocardiogram in the Differentiation of Cardiac Amyloidosis and Nonobstructive Hypertrophic Cardiomyopathy.
 

Author(s): Jinghan Huang, Shihua Zhao, Zaijiang Chen, Shu Zhang, Minjie Lu

Journal: Int Heart J. 2015 ;56(5):522-6.

 

Due to similar manifestations of hypertensive ventricular walls and abnormal ventricular compliance, it is difficult to differentiate cardiac amyloidosis (CA) and nonobstructive hypertrophic cardiomyopathy (NOHCM) clinically. The purpose of the study was to investigate the value of ...

Last Updated: 1 Oct 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" returned 164 free, full-text review articles on human participants. First 3 results:

Role of Cholesterol and Phospholipids in Amylin Misfolding, Aggregation and Etiology of Islet Amyloidosis.
 

Author(s): Sanghamitra Singh, Saurabh Trikha, Diti Chatterjee Bhowmick, Anjali A Sarkar, Aleksandar M Jeremic

Journal: Adv. Exp. Med. Biol.. 2015 ;855():95-116.

 

Amyloidosis is a biological event in which proteins undergo structural transitions from soluble monomers and oligomers to insoluble fibrillar aggregates that are often toxic to cells. Exactly how amyloid proteins, such as the pancreatic hormone amylin, aggregate and kill cells is ...

Last Updated: 7 Jul 2015

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Systemic amyloidosis: lessons from β2-microglobulin.
 

Author(s): Monica Stoppini, Vittorio Bellotti

Journal: J. Biol. Chem.. 2015 Apr;290(16):9951-8.

 

β2-Microglobulin is responsible for systemic amyloidosis affecting patients undergoing long-term hemodialysis. Its genetic variant D76N causes a very rare form of familial systemic amyloidosis. These two types of amyloidoses differ significantly in terms of the tissue localization ...

Last Updated: 18 Apr 2015

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Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs.
 

Author(s): Adam Castaño, Brian M Drachman, Daniel Judge, Mathew S Maurer

Journal: Heart Fail Rev. 2015 Mar;20(2):163-78.

 

Transthyretin-cardiac amyloidoses (ATTR-CA) are an underdiagnosed but increasingly recognized cause of heart failure. Extracellular deposition of fibrillary proteins into tissues due to a variety of inherited transthyretin mutations in ATTRm or due to advanced age in ATTRwt eventually ...

Last Updated: 16 Mar 2015

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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

Transthyretin-Associated Amyloidoses Outcome Survey (THAOS)
 

Status: Recruiting

Condition Summary: Transthyretin Mutations; Transthyretin Amyloidosis

 

Last Updated: 3 Feb 2016

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Last Updated: 1 Oct 2015

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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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