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: 3 Mar 2013

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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: 3 Mar 2013

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

Fabry disease: clinical and genotypic aspects of three cases in first degree relatives.
 

Author(s): Letícia Bueno Nunes da Silva, Thais Cardoso de Mello Tucunduva Badiz, Milvia Maria Simões e Silva Enokihara, Adriana Maria Porro

Journal: An Bras Dermatol. ;89(1):141-3.

 

Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions ...

Last Updated: 14 Mar 2014

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Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease.
 

Author(s): Nurcan Uçeyler, György A Homola, Hans Guerrero González, Daniela Kramer, Christoph Wanner, Frank Weidemann, László Solymosi, Claudia Sommer

Journal:

 

A high load of white matter lesions and enlarged basilar arteries have been shown in selected patients with Fabry disease, a disorder associated with an increased stroke risk. We studied a large cohort of patients with Fabry disease to differentially investigate white matter lesion ...

Last Updated: 29 Jan 2014

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De novo mutation in a male patient with Fabry disease: a case report.
 

Author(s): Francesco Iemolo, Federica Pizzo, Giuseppe Albeggiani, Carmela Zizzo, Paolo Colomba, Simone Scalia, Caterina Bartolotta, Giovanni Duro

Journal:

 

Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to glycosphingolipid storage, mainly globotriaosylceramide. To date, more than 600 mutations have been identified in human GLA gene that are ...

Last Updated: 13 Jan 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 "Fabry Disease" returned 35 free, full-text review articles on human participants. First 3 results:

Fibrosis: a key feature of Fabry disease with potential therapeutic implications.
 

Author(s): Frank Weidemann, Maria D Sanchez-Niño, Juan Politei, João-Paulo Oliveira, Christoph Wanner, David G Warnock, Alberto Ortiz

Journal:

 

Fabry disease is a rare X-linked hereditary disease caused by mutations in the AGAL gene encoding the lysosomal enzyme alpha-galactosidase A. Enzyme replacement therapy (ERT) is the current cornerstone of Fabry disease management. Involvement of kidney, heart and the central nervous ...

Last Updated: 9 Aug 2013

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Renal complications of Fabry disease in children.
 

Author(s): Behzad Najafian, Michael Mauer, Robert J Hopkin, Einar Svarstad

Journal: Pediatr. Nephrol.. 2013 May;28(5):679-87.

 

Fabry disease is an X-linked α-galactosidase A deficiency, resulting in accumulation of glycosphingolipids, especially globotriaosylceramide, in cells in different organs in the body. Renal failure is a serious complication of this disease. Fabry nephropathy lesions are present and ...

Last Updated: 21 Mar 2013

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Anderson-Fabry disease: a cardiomyopathy that can be cured.
 

Author(s): Aris Anastasakis, Elias Sevdalis, Efstathios Papatheodorou, Christodoulos Stefanadis

Journal: Hellenic J Cardiol. ;52(4):316-26.

 

Last Updated: 21 Sep 2011

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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: 3 Jun 2014

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Fabry Disease Registry
 

Status: Recruiting

Condition Summary: Fabry Disease

 

Last Updated: 26 Aug 2014

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Androgenetic Alopecia in Fabry Disease
 

Status: Recruiting

Condition Summary: Fabry Disease

 

Last Updated: 21 Mar 2014

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