Fabry disease synonyms
What other names are the Fabry disease known by? Synonyms and other terms with which Fabry disease is known.
Fabry disease, also known as Anderson-Fabry disease, is a rare genetic disorder that falls under the category of lysosomal storage diseases. It is caused by a mutation in the GLA gene, which leads to a deficiency or malfunction of the enzyme alpha-galactosidase A (α-Gal A). This enzyme is responsible for breaking down a fatty substance called globotriaosylceramide (Gb3) or globotriaosylsphingosine (Lyso-Gb3).
The accumulation of Gb3 and Lyso-Gb3 in various tissues and organs, including the kidneys, heart, skin, and nervous system, is the hallmark of Fabry disease. This progressive buildup can result in a wide range of symptoms and complications that can vary in severity among affected individuals.
Common synonyms for Fabry disease include:
- Anderson-Fabry disease
- Angiokeratoma corporis diffusum
- Alpha-galactosidase A deficiency
- GLA deficiency
- Hereditary dystopic lipidosis
- Sphingolipidosis
- GLA-associated disorder
Early signs and symptoms of Fabry disease often manifest in childhood or adolescence and may include episodes of pain, particularly in the hands and feet, skin rashes, gastrointestinal issues, and corneal opacities. As the disease progresses, individuals may experience kidney dysfunction, heart problems, hearing loss, stroke, and neurological complications.
Diagnosis of Fabry disease involves a combination of clinical evaluation, family history assessment, enzyme activity testing, genetic testing, and analysis of biomarkers. While there is currently no cure for Fabry disease, management focuses on symptom relief, preventing complications, and improving quality of life.
It is important for individuals with Fabry disease to receive appropriate medical care and support from healthcare professionals experienced in managing this rare condition.
