Fabry's disease
Fabry's disease (pronounced: /ˈfæbriːz diːziːz/), also known as Anderson-Fabry disease or alpha-galactosidase A deficiency, is a rare genetic disorder that results from the buildup of a particular type of fat, known as globotriaosylceramide, in the body's cells. It is named after the German dermatologist, Johannes Fabry, who first described the condition in 1898.
Etymology
The disease is named after Johannes Fabry, a German dermatologist who first described the condition in 1898. The term "Fabry's disease" is derived from his surname.
Symptoms
The symptoms of Fabry's disease can vary greatly from one person to another, often related to the amount and location of fat buildup. Some common symptoms include pain in the hands and feet, clusters of small, dark red spots on the skin, decreased sweat production, cloudiness of the front part of the eye, gastrointestinal problems, ringing in the ears, and hearing loss.
Causes
Fabry's disease is caused by mutations in the GLA gene. This gene provides instructions for producing an enzyme called alpha-galactosidase A, which is responsible for breaking down globotriaosylceramide. Mutations in the GLA gene lead to a shortage (deficiency) of alpha-galactosidase A, causing globotriaosylceramide to accumulate in cells throughout the body.
Diagnosis
Diagnosis of Fabry's disease can be challenging due to its wide range of symptoms. It is often diagnosed through a blood test that measures the level of alpha-galactosidase A in the blood. Genetic testing can also be used to identify mutations in the GLA gene.
Treatment
There is currently no cure for Fabry's disease, but treatments are available to manage symptoms and slow the progression of the disease. These include enzyme replacement therapy (ERT), which replaces the deficient alpha-galactosidase A enzyme, and chaperone therapy, which helps the body's own alpha-galactosidase A work better.
See also
External links
- Medical encyclopedia article on Fabry's disease
- Wikipedia's article - Fabry's disease
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