Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease 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 or streaks in the front part of the eye (corneal opacity or corneal verticillata); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney failure, heart failure, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and typically involve only the heart, kidneys, or blood vessels in the brain.
Fabry disease is caused by variants (also known as mutations) in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha-galactosidase A normally breaks down a fatty substance called globotriaosylceramide. Variants in the GLA gene alter the structure and function of the enzyme, preventing it from breaking down this substance effectively. As a result, globotriaosylceramide builds up in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. The progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease.
Fabry disease affects an estimated 1 in 1,000 to 9,000 people. Milder, late-onset forms of the disorder are probably more common than the classic, severe form.
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the altered gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the GLA gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or rarely may cause no symptoms at all.
Derralynn Hughes is in London, United Kingdom. Hughes is rated as an Elite expert by MediFind in the treatment of Fabry Disease. They are also highly rated in 13 other conditions, according to our data. Their top areas of expertise are Fabry Disease, Gaucher Disease, Gaucher Disease Type 3, and Gaucher Disease Type 2.
Antonio Pisani is in Bari, Italy. Pisani is rated as an Elite expert by MediFind in the treatment of Fabry Disease. He is also highly rated in 16 other conditions, according to our data. His top areas of expertise are Fabry Disease, Drug Induced Dyskinesia, Oppenheim Dystonia, and Focal Dystonia.
Raphael Schiffmann is a Neurologist and a Neurosurgery doctor in Dallas, Texas. Dr. Schiffmann has been practicing medicine for over 42 years and is rated as an Elite doctor by MediFind in the treatment of Fabry Disease. He is also highly rated in 25 other conditions, according to our data. His top areas of expertise are Fabry Disease, Leukodystrophy, Adult Polyglucosan Body Disease, and CACH Syndrome. He is licensed to treat patients in Texas. Dr. Schiffmann is currently accepting new patients.
Published Date:updated Last, May
Published By: National Institutes of Health