“Imagine every cell in your body has this buildup of trash that has been building up since birth,” explained nephrologist Eric Wallace, MD, Director of Telehealth, University of Alabama at Birmingham, in regard to Anderson-Fabry disease.
“Well, now, later on in life, the organs don’t work as well,” he continued.
Resulting from mutations of the α-galactosidase A (GLA) gene, Fabry disease is marked by the impairment of lysosome function. As a result, particular compounds and intracellular structures are unable to be digested or be broken down.
The big-picture result of this disorder is pain as well as potential nephrological, cardiological, neurological, and dermatological complications.
As a multisystemic disorder, Fabry can increase risk for an enlarged heart, kidney disease, Alzheimer’s disease, gastrointestinal involvement, angiokeratomas—to name just a few symptoms.
In this episode of the Rare Disease Report podcast, Wallace discussed the cause of Fabry disease, which populations or types of patients are most likely to be diagnosed with the genetic disorder, current screening methods and gaps, and any ongoing research.
He provided essential perspective as a nephrologist with hands-on experience working with such patients.
Wallace has advocated for a stronger focus on maintaining and treating kidney health, thus calling for ensuring regular monitoring as part of the standard of care among Fabry patients.
HCPLive® and Rare Disease Report® are proud to present the second installment of a new podcast series that will provide a platform for experts and advocates to share their knowledge, tell their story, and augment the discussion surrounding diseases that have—for too long—fallen beneath the radar.
