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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Ben's Friends

Our mission is to ensure that everyone in the world with a rare disease has a safe place to go and connect with others like them.

Last Updated: 11 Jul 2016

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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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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Ben's Friends

Our mission is to ensure that everyone in the world with a rare disease has a safe place to go and connect with others like them.

http://www.bensfriends.org

Last Updated: 11 Jul 2016

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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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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 "Fabry Disease" returned 369 free, full-text research articles on human participants. First 3 results:

One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease.
 

Author(s): Behzad Najafian, Camilla Tøndel, Einar Svarstad, Alexey Sokolovkiy, Kelly Smith, Michael Mauer

Journal:

 

Fabry nephropathy is associated with progressive accumulation of globotriaosylceramide (GL3) in podocytes. Reducing this GL3 burden may reduce podocyte injury. Sensitive methods to quantify podocyte GL3 content may determine whether a given strategy can benefit podocytes in Fabry ...

Last Updated: 16 Apr 2016

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Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease.
 

Author(s): Djeven Parameshvara Deva, Kate Hanneman, Qin Li, Ming Yen Ng, Syed Wasim, Chantal Morel, Robert M Iwanochko, Paaladinesh Thavendiranathan, Andrew Michael Crean

Journal:

 

Although it is known that Anderson-Fabry Disease (AFD) can mimic the morphologic manifestations of hypertrophic cardiomyopathy (HCM) on echocardiography, there is a lack of cardiovascular magnetic resonance (CMR) literature on this. There is limited information in the published literature ...

Last Updated: 2 Apr 2016

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No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.
 

Author(s): Bianca T A de Greef, Janneke G J Hoeijmakers, Emma E Wolters, Hubertus J M Smeets, Arthur van den Wijngaard, Ingemar S J Merkies, Catharina G Faber, Monique M Gerrits

Journal:

 

Screening for Fabry disease in patients with small fiber neuropathy has been suggested, especially since Fabry disease is potentially treatable. However, the diagnostic yield of testing for Fabry disease in isolated small fiber neuropathy patients has never been systematically investigated. ...

Last Updated: 12 Feb 2016

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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 40 free, full-text review articles on human participants. First 3 results:

Pain management strategies for neuropathic pain in Fabry disease--a systematic review.
 

Author(s): Y Schuller, G E Linthorst, C E M Hollak, I N Van Schaik, M Biegstraaten

Journal:

 

Neuropathic pain is one of the key features of (classical) Fabry disease (FD). No randomized clinical trials comparing effectiveness of different pain management strategies have been performed. This review aims to give an overview of existing pain management strategies.

Last Updated: 25 Feb 2016

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Lipiduria--with special relevance to Fabry disease.
 

Author(s): Gavin J Becker, Kathleen Nicholls

Journal: Clin. Chem. Lab. Med.. 2015 Nov;53 Suppl 2():s1465-70.

 

Examination of the urine under the microscope using polarised light is invaluable for detecting and identifying lipid particles. Attention to the shape of these Maltese cross bearing bodies can distinguish conventional fat particles from Fabry bodies with great sensitivity and specificity ...

Last Updated: 3 Nov 2015

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Quality of life in patients with Fabry disease: a systematic review of the literature.
 

Author(s): Maarten Arends, Carla E M Hollak, Marieke Biegstraaten

Journal:

 

Fabry disease (FD), caused by deficiency of the lysosomal enzyme α-galactosidase-A, is a progressive multisystem disease. The disease is X-linked with generally more severe manifestations in males, but can impact on quality of life (QoL) of both male and female patients. The purpose ...

Last Updated: 29 Jun 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Home Therapy With Replagal in Fabry Disease
 

Status: Recruiting

Condition Summary: Fabry Disease

 

Last Updated: 9 May 2016

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Fabry Disease Registry
 

Status: Recruiting

Condition Summary: Fabry Disease

 

Last Updated: 8 Jul 2016

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Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study
 

Status: Recruiting

Condition Summary: Fabry Disease

 

Last Updated: 2 Feb 2016

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