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

Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease.
 

Author(s): Eungu Kang, Yoon-Myung Kim, Dae-Hee Kim, Han-Wook Yoo, Beom Hee Lee

Journal: Medicine (Baltimore). 2017 Feb;96(6):e6063.

 

Angiokeratomas are the earliest manifestation of Fabry disease (FD), and the extent of their appearance is related to disease severity. Angiokeratomas are mostly found on cutaneous regions.

Last Updated: 8 Feb 2017

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A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.
 

Author(s): Han-Jui Lee, Ting-Rong Hsu, Sheng-Che Hung, Wen-Chung Yu, Tzu-Hung Chu, Chia-Feng Yang, Svetlana Bizjajeva, Chui-Mei Tiu, Dau-Ming Niu

Journal:

 

Patients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations.

Last Updated: 7 Feb 2017

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The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study.
 

Author(s): Kultigin Turkmen, Aydın Guclu, Garip Sahin, Ismail Kocyigit, Levent Demirtas, Fatih Mehmet Erdur, Erkan Sengül, Oktay Ozkan, Habib Emre, Faruk Turgut, Hilmi Unal, Murat Karaman, Cengiz Acıkel, Hasan Esen, Ebru Balli, Gulfidan Bıtırgen, Halil Zeki Tonbul, Mahmut Ilker Yılmaz, Alberto Ortiz

Journal: Kidney Blood Press. Res.. 2016 ;41(6):1016-1024.

 

Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports ...

Last Updated: 22 Dec 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 38 free, full-text review articles on human participants. First 3 results:

The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
 

Author(s): Valentina Citro, Marco Cammisa, Ludovica Liguori, Chiara Cimmaruta, Jan Lukas, Maria Vittoria Cubellis, Giuseppina Andreotti

Journal:

 

Fabry disease is caused by mutations in the GLA gene and is characterized by a large genotypic and phenotypic spectrum. Missense mutations pose a special problem for graduating diagnosis and choosing a cost-effective therapy. Some mutants retain enzymatic activity, but are less stable ...

Last Updated: 5 Dec 2016

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Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease.
 

Author(s): Daniel Oder, Peter Nordbeck, Christoph Wanner

Journal: Nephron. 2016 ;134(1):30-6.

 

Anderson-Fabry disease is a potentially life-threatening hereditary lysosomal storage disorder taking origin in over 1,000 known pathogenic mutations in the alpha-galactosidase A encoding gene. Over the past 15 years, intravenous replacement therapy of the deficient alpha agalsidase ...

Last Updated: 15 Sep 2016

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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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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: 1 Feb 2017

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Fabry Disease Registry
 

Status: Recruiting

Condition Summary: Fabry Disease

 

Last Updated: 16 Mar 2017

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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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