Fabry disease
Fabry disease (pronounced: /ˈfæbri/) is a rare genetic disorder, which is often inherited in an X-linked recessive manner. It is named after the 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" is derived from the Latin "faber," meaning "smith" or "craftsman."
Definition
Fabry disease is a type of lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A. This deficiency leads to the accumulation of a type of fat called globotriaosylceramide (Gb3) in the body's cells, causing a range of symptoms including pain, kidney dysfunction, heart disease, and stroke.
Symptoms
The symptoms of Fabry disease can vary widely among affected individuals. They may include episodes of pain, particularly in the hands and feet (acroparesthesia); clusters of small, dark red spots on the skin (angiokeratoma); a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss.
Diagnosis
Diagnosis of Fabry disease is often made through a blood test to measure the level of alpha-galactosidase A enzyme activity. Genetic testing can also be used to identify mutations in the GLA gene, which causes Fabry disease.
Treatment
Treatment for Fabry disease often involves enzyme replacement therapy (ERT) to replace the missing or deficient alpha-galactosidase A enzyme. Other treatments may include pain management, kidney dialysis or transplantation, and treatments for heart disease.
See also
References
External links
- Medical encyclopedia article on Fabry disease
- Wikipedia's article - Fabry disease
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