During the month of April, we wish to raise awareness for Fabry disease to improve the recognition, diagnosis, understanding, and management of the disease.
We suspect many people live their entire lives without knowing the underlying cause of their Fabry disease symptoms. Many others are diagnosed very late after irreversible organ damage occurs. Increased awareness can help to change these tragic unnecessary circumstances to give people a chance at better and longer lives. 1
Fabry disease is a rare, genetic condition that is estimated to affect around 1 in 50,000 males, and approximately 70% of females with Fabry have signs and symptoms2. In Fabry, an enzyme called α-galactosidase A (α-Gal A) is missing or there is a reduced amount. This means that the body cannot break down a certain type of fat called globotriaosylceramide (GL-3), it accumulates causing damage to tissues and organs3. The many signs and symptoms of Fabry disease vary from signs that usually do not have physical health impacts such as angiokeratoma (skin lesions) and corneal opacities (whorling or streak-like cloudy patterns in the eye) to severe symptoms such as lung disease, hearing loss, heart attacks, strokes (usually at an early age), and kidney failure. Age of onset, progression, severity, and health implications can vary significantly between patients and may be influenced by the sex of the individual and disease manifestation. 4
There is no cure for Fabry disease, but current treatments may prevent organ damage and greatly improve the quality of life of patients.3
The information is provided as a public service by TrueMed Ltd.
Contact your physician for further information.
1. https://lnkd.in/ea39gba accessed on April 4th 2023.
2. https://lnkd.in/d3UmajkS accessed on April 4th 2023.
3. https://lnkd.in/d9riRm2n accessed on April 4th 2023.
4. https://lnkd.in/djrEFRWZ accessed on April 4th 2023.