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Fabry disease is an inherited disorder that results from the buildup of a particular type of fat 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 of the front part of the eye (corneal opacity); and hearing loss. Fabry disease also involves potentially life-threatening complications such as 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 affects an estimated 1 in 40,000 to 60,000 males. This disorder also occurs in females, although less frequently. Milder, late-onset forms of the disorder are probably more common than the classic, severe form.
Mutations in the GLA gene cause Fabry disease.
The GLA 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. Mutations 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.
GLA mutations that result in an absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease. Mutations that decrease but do not eliminate the enzyme's activity usually cause the milder, late-onset forms of Fabry disease that affect only the heart or kidneys.
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated 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 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 may cause no symptoms at all.
Unlike other X-linked disorders, Fabry disease causes significant medical problems in many females who have one altered copy of the GLA gene. These women may experience many of the classic features of the disorder, including nervous system abnormalities, kidney problems, chronic pain, and fatigue. They also have an increased risk of developing high blood pressure, heart disease, stroke, and kidney failure. The signs and symptoms of Fabry disease usually begin later in life and are milder in females than in their affected male relatives.
Some females who carry a mutation in one copy of the GLA gene never have any of the signs and symptoms of Fabry disease.
Gaucher Disease Treatment Centers - Provides links to Lysosomal Storage Disorder Treatment Centers, and centers with experience in caring for patients with Gaucher Disease, Fabry Disease, MPS-1 and other LSDs.
Fabry's Disease - Information sheet on this disease including treatment, prognosis and research.
Fabry's Disease - About this disease its symptoms and possible complications, prognosis and treatment.
Cardiac Transplantation for Fabry's Disease - The Canadian Journal of Cardiology presents and article on this topic.
Fabrazyme - A Treatment for Fabry Disease - This web site is intended for use by European physicians only. You must log-in to use this site.
Fabry Disease Registry - Information about an ongoing observational database that tracks the natural history and clinical outcomes of patients with this disease.
eMedicine: Fabry Disease - University of Texas MD describes symptoms, treatment, and prognosis for patients suffering with this rare but severe lysosomal disorder.
Fabry Community - Provides information and support for people with Fabry disease, their caregivers and families, and their health care providers.
Fabry Disease: Facts for Patients and their Families - The Mount Sinai School of Medicine provides information about symptoms, diagnosis, management, and enzyme replacement therapy. Register for the International Center for Fabry Disease mailing list.
Fabry Support and Information Group - Information about the group and this disease. Join the group free of charge and receive a newsletter.