Other terms
- Fibrosis
- Fingernail Psoriasis
- Food and Drug Administration (FDA)
- Functional Dyspepsia
- Fundus Diseases
- Ganglion cyst
- Gastric Cancer
- Gastric Ulcer
- Gastroenteritis
- Gastroenterology
- Irritable Bowel Syndrome (IBS)
- Gene Therapy
Fabry Disease
What is Fabry Disease? Fabry disease is a rare X-linked sphingolipid lysosomal storage disorder. It is the most prevalent of the lysosomal storage disorders affecting 1 in 40,000 men and 1 in 117,000 women, although based on neonatal screenings alone, the incidence of the disease is thought to be higher.
What is the Cause of Fabry Disease?
Fabry disease is caused by an inborn error in the GLA gene resulting in the deficiency of alpha-galactosidase A (α-Gal A), an enzyme present in the lysosome that is involved in the glycosphingolipid metabolic pathway.
The deficiency leads to the accumulation of globotriaosylceramide (Gb3) in nearly all organs leading to progressive, multiorgan damage.
Symptoms of Fabry Disease
The symptoms of Fabry disease can have a variable presentation depending upon the type of mutation affecting the GLA gene, the age of presentation, and the degree of deficiency of the enzymes. Fabry disease also tends to be milder in women.
Common signs and symptoms include:
Cardiovascular events such as stroke and peripheral vascular disease
Cardiomyopathy
Arrhythmia
Gastrointestinal symptoms, including abdominal pain and diarrhea
Neuropathic pain
Hearing loss
Renal impairment
Source: Lenders, M., & Brand, E. (2021). Fabry Disease: The Current Treatment Landscape. Drugs, 81(6), 635–645. https://doi.org/10.1007/s40265-021-01486-1
