Jack Johnson, of the Fabry Support and Information Group (FSIG) talks about the different types of pain often associated with Fabry disease.
Fabry disease is a rare, X-linked lysosomal storage disorder that is caused by the deficiency of the enzyme α-galactosidase A (α-Gal A) due to mutations in the GLA gene.
Common symptoms include neuropathic pain, gastrointestinal symptoms, skin lesions, renal failure, and cardiovascular disease. In this interview, Jack Johnson talks about the different pain that many individuals with Fabry disease must endure, including acute “pain crises” that may require visits to the emergency department.
Treatment for Fabry disease requires a team of experts to manage the various symptoms and organs involved in this rare disease. Currently, two different types of therapies are approved for the treatment of Fabry disease – enzyme replacement therapy and/or chaperone therapy.
To learn more about Fabry disease and other lysosomal disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/