Fabry Disease

Common Name(s)

Fabry Disease, Anderson-Fabry Disease, Ceramide Trihexosidosis

Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells and affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Canadian Fabry Association

To undertake public and private education and awareness, dissemination and publication of information about Fabry disease; initiate, encourage and support research and investigation into its causes and treatment, and to provide funds in respect thereof; to promote better understanding, management and treatment; and to arrange for, coordinate and increase the facilities available for diagnosis, consultation and treatment of those suffering from Fabry disease.

Last Updated: 2 Dec 2009

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Fabry International Network

FINs vision is of a world where every person affected by Fabry disease has the best quality of life possible through early diagnosis, treatment and cure. The primary aim of the FIN is to facilitate collaboration between organizations to support those affected by Fabry disease. It seeks to do this primarily through enabling communication, promoting best practice and acting as an independent forum for Fabry patients around the world.

Last Updated: 5 Aug 2013

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Fabry Support & Information Group

It is the mission of the Fabry Support & Information Group to provide the Fabry community and the general public with information, advocacy, education and compassionate support to improve the quality of life and the quality of care for Fabry patients and family members.

Last Updated: 30 Jan 2015

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National Fabry Disease Foundation

The mission of the National Fabry Disease Foundation is to help ensure that all individuals with Fabry disease are identified, diagnosed and treated in time to avoid a diminished quality of life or life threatening consequences, to provide assistance to individuals with Fabry disease and their families, to provide Fabry disease education and awareness, to promote continued research and data-gathering to improve treatment opportunities and to find a cure.

Last Updated: 24 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 "Fabry Disease" for support, advocacy or research.

Logo
Canadian Fabry Association

To undertake public and private education and awareness, dissemination and publication of information about Fabry disease; initiate, encourage and support research and investigation into its causes and treatment, and to provide funds in respect thereof; to promote better understanding, management and treatment; and to arrange for, coordinate and increase the facilities available for diagnosis, consultation and treatment of those suffering from Fabry disease.

http://www.fabrycanada.com

Last Updated: 2 Dec 2009

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Fabry International Network

FINs vision is of a world where every person affected by Fabry disease has the best quality of life possible through early diagnosis, treatment and cure. The primary aim of the FIN is to facilitate collaboration between organizations to support those affected by Fabry disease. It seeks to do this primarily through enabling communication, promoting best practice and acting as an independent forum for Fabry patients around the world.

http://www.fabrynetwork.org/

Last Updated: 5 Aug 2013

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Fabry Support & Information Group

It is the mission of the Fabry Support & Information Group to provide the Fabry community and the general public with information, advocacy, education and compassionate support to improve the quality of life and the quality of care for Fabry patients and family members.

http://www.Fabry.org

Last Updated: 30 Jan 2015

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National Fabry Disease Foundation

The mission of the National Fabry Disease Foundation is to help ensure that all individuals with Fabry disease are identified, diagnosed and treated in time to avoid a diminished quality of life or life threatening consequences, to provide assistance to individuals with Fabry disease and their families, to provide Fabry disease education and awareness, to promote continued research and data-gathering to improve treatment opportunities and to find a cure.

http://www.fabrydisease.org

Last Updated: 24 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 "Fabry Disease" returned 320 free, full-text research articles on human participants. First 3 results:

[Evaluation of vascular function in patients with Fabry disease].
 

Author(s): Qian Gao, Qing Peng, Jing Chen, Wei Zhang, Zhao-xia Wang, Yun Yuan, Yue-huan Zuo, Jing Liu

Journal: Beijing Da Xue Xue Bao. 2015 Oct;47(5):796-9.

 

To evaluate the endothelial functions and autoregulation capacity of cerebral blood flow in patients with Fabry disease.

Last Updated: 17 Oct 2015

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Prevalence of Raynaud phenomenon and nailfold capillaroscopic abnormalities in Fabry disease: a cross-sectional study.
 

Author(s): Samuel Deshayes, Laurent Auboire, Roland Jaussaud, Olivier Lidove, Jean-Jacques Parienti, Nathalie Triclin, Bernard Imbert, Boris Bienvenu, Achille Aouba

Journal: Medicine (Baltimore). 2015 May;94(20):e780.

 

Fabry disease (FD) is a lysosomal disorder leading to progressive systemic involvement, including microvascular damage that leads to neurological and cardiovascular disorders. We hypothesize that the latter could be documented at an early stage by performing a microcirculation study ...

Last Updated: 22 May 2015

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Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.
 

Author(s): Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, Lorne A Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, Robert J Hopkin, Michael Mauer, Behzad Najafian, C Ronald Scott, Suma P Shankar, Beth L Thurberg, Camilla Tøndel, Anna Tylki-Szymańska, Uma Ramaswami

Journal:

 

This analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.

Last Updated: 9 May 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 "Fabry Disease" returned 37 free, full-text review articles on human participants. First 3 results:

Fabry disease and the heart.
 

Author(s): Nora Seydelmann, Christoph Wanner, Stefan Störk, Georg Ertl, Frank Weidemann

Journal: Best Pract. Res. Clin. Endocrinol. Metab.. 2015 Mar;29(2):195-204.

 

Fabry disease is induced by a mutation in the alpha-galactosidase A gene, causing a deficiency of the enzyme alpha-galactosidase A. (1) The enzyme defect leads to progressive intracellular accumulation of globotriaosylceramide in lysosomes of various tissues and organs, including ...

Last Updated: 19 May 2015

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Cerebrovascular involvement in Fabry disease: current status of knowledge.
 

Author(s): Edwin Kolodny, Andreas Fellgiebel, Max J Hilz, Katherine Sims, Paul Caruso, Thanh G Phan, Juan Politei, Renzo Manara, Alessandro Burlina

Journal: Stroke. 2015 Jan;46(1):302-13.

 

Last Updated: 23 Dec 2014

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Anderson-Fabry disease and other lysosomal storage disorders.
 

Author(s): Sherif F Nagueh

Journal: Circulation. 2014 Sep;130(13):1081-90.

 

Last Updated: 23 Sep 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement in Patients With Anderson-Fabry Disease
 

Status: Recruiting

Condition Summary: Fabry Disease; Fabry´s Disease; Anderson-Fabry Disease

 

Last Updated: 8 Feb 2016

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Fabry Disease Registry
 

Status: Recruiting

Condition Summary: Fabry Disease

 

Last Updated: 26 Jan 2016

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Establishment of Biomarkers for Fabry Disease
 

Status: Recruiting

Condition Summary: Fabry Disease

 

Last Updated: 20 May 2013

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