Female Patients with Fabry Disease



Ankit Mehta, MD, Nephrologist and Program Director for the Department of Internal Medicine at Baylor University Medical Center, discusses female patients with Fabry disease.

Fabry disease is a rare X-linked lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide. Characteristic features of Fabry disease include acroparesthesias, proteinuria, gastrointestinal problems, angiokeratomas, hypohidrosis, corneal opacity, tinnitus, and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke.

As Dr. Mehta explains, as Fabry disease is an X-linked disorder, it has been assumed that the disease exclusively affected male patients, while female patients can only be carriers for the disease. Current research, however, suggests that this is not the case. In females, one of the X chromosomes is randomly inactivated in cells other than egg cells. As such, if a female patient randomly inactivates the X chromosome with a healthy GLA gene while the X chromosome with the mutated GLA gene remains active, she will have Fabry disease. More research in female patients with Fabry disease is necessary but, interestingly, it is common for female patients to have some cells with Fabry disease manifestations and some cells without, which leads to unpredictable symptoms and difficulty receiving a diagnosis

To learn more about Fabry disease and other lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/