Other Names for this Disease
- Angiokeratoma, diffuse
- Anderson-Fabry disease
- Hereditary dystopic lipidosis
- Alpha-galactosidase A deficiency
- GLA deficiency
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 Fabry disease 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.Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3.
Last updated: 3/28/2016
- National Fabry Disease Foundation. What is Fabry Disease?. December 18, 2011; http://www.fabrydisease.org/index.php?option=com_k2&view=item&layout=item&id=111&Itemid=807.
- Fabry disease. Genetics Home Reference. February 2012; http://ghr.nlm.nih.gov/condition/fabry-disease.
- Atul Mehta, Derralynn A Hughes. Fabry Disease. GeneReviews. October 17, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1292/.
- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
- Genetics Home Reference (GHR) contains information on Fabry disease. This website is maintained by the National Library of Medicine.
- The National Fabry Disease Foundation offers information and support for Fabry disease. Click on the link to learn more.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Kidney Foundation, Inc. offers an information page on Fabry disease.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Fabry disease. Click on the link to view a sample search on this topic.
- Ries, et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 2006;118:924-932.
- Ries, et al. Pediatric Fabry Disease. Pediatrics 2005;115:e344-e355.