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.

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.

Last Updated: 2 Dec 2009

View Details
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

View Details
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

View Details
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
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

View Details
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

View Details
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Prevalence and Risk Factors of Sleep Disordered Breathing in Fabry disease: A Prospective Cohort Study.
 

Author(s): Daniel Franzen, Nicolas Gerard, Daniel J Bratton, Annette Wons, Thomas Gaisl, Noriane A Sievi, Christian F Clarenbach, Malcolm Kohler, Pierre A Krayenbühl

Journal: Medicine (Baltimore). 2015 Dec;94(52):e2413.

 

Excessive daytime sleepiness (EDS) is a frequently reported and not well-understood symptom in patients with Fabry disease (FD). Sleep-disordered breathing (SDB) is a possible factor. As deposition of glycosphingolipids in the upper airway muscles is likely, we hypothesized that obstructive ...

Last Updated: 31 Dec 2015

Go To URL
Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease: A Nationwide, Long-Time, Prospective Follow-Up.
 

Author(s): Kirsten Korsholm, Ulla Feldt-Rasmussen, Henrik Granqvist, Liselotte Højgaard, Birgit Bollinger, Aase K Rasmussen, Ian Law

Journal:

 

Fabry disease is a rare metabolic glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme α-galactosidase A--leading to cellular accumulation of globotriasylceramide in different organs, vessels, tissues, and nerves. The disease is associated with an increased ...

Last Updated: 3 Dec 2015

Go To URL
Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease.
 

Author(s): Antonio Pisani, Aurora Daniele, Carmela Di Domenico, Ersilia Nigro, Francesco Salvatore, Eleonora Riccio

Journal:

 

We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history.

Last Updated: 25 Nov 2015

Go To URL

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:

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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Patients With Fabry Disease
 

Status: Recruiting

Condition Summary: Fabry Disease; Anderson-Fabry Disease; Lysosomal Storage Diseases; Alpha-Galactosidase A Deficiency

 

Last Updated: 19 May 2016

Go to URL
Fabry Disease Registry
 

Status: Recruiting

Condition Summary: Fabry Disease

 

Last Updated: 4 Mar 2016

Go to URL
Establishment of Biomarkers for Fabry Disease
 

Status: Recruiting

Condition Summary: Fabry Disease

 

Last Updated: 20 May 2013

Go to URL