Fabry disease is a rare inherited condition caused by changes in the GLA gene. These changes can lead to low or absent activity of an enzyme called alpha-galactosidase A. As a result, certain fatty substances build up in cells throughout the body. Fabry is an x-linked disease. If a Father carries the mutated allele, none of his son’s will be affected but all of his daughters will. If a Mother carries the mutated allele, all of her children will have a 50/50 chance of  receiving the  affected X chromosome. Females with Fabry have very variable symptoms, and thus are often misdiagnosed.

The buildup can affect multiple organs, including the kidneys, heart and nervous system. Symptoms vary widely: some people develop serious complications, while others have milder or later-onset disease. Possible symptoms include pain in the hands and feet, digestive problems, reduced ability to sweat, skin spots, hearing issues and fatigue. Fabry disease can affect people of all sexes, though the condition may present differently from person to person.

Treatment and monitoring are individualized. Depending on the person and their disease, care may include therapies that address the underlying enzyme deficiency or genetic cause, along with treatment for specific symptoms and organ complications. Regular follow-up can help clinicians track changes over time. A person should not start, stop or change treatment without discussing it with their healthcare team.

Survey highlights challenges for people with untreated Fabry disease

A survey of 238 adults with Fabry disease in the United States and Canada asked about their experiences, including those of 49 people who were not currently receiving treatment. The study, titled “The Reality of Untreated Fabry Disease: Patient-Reported Challenges From a 238-Participant Cross-Sectional Survey” (P-299), was conducted by Chiesi Global Rare Diseases and presented at the SSIEM 2026 Annual Symposium. The SSIEM is Society for the Study of Inborn Errors of Metabolism (SSIEM).

Among the people who were not receiving treatment:

• 40% said they had developed new symptoms or experienced worsening symptoms, even though their physicians considered their disease stable.
• 76% reported that their disease was not being monitored as often or as thoroughly as they felt it should be.
• Of those reporting suboptimal monitoring, 45% said infrequent physician visits were the main reason.
• Only 12% said they were very likely to tell their physician if their symptoms worsened.
• 68% said they would consider treatment if their physician recommended it.

These responses point to a possible gap between how some patients experience their disease and how stable it may appear during routine care. They also suggest that visit frequency and communication about changing symptoms may be important parts of disease management.

The survey describes participants’ reported experiences at one point in time. It does not establish why symptoms changed, whether monitoring affected health outcomes, or whether treatment would benefit every untreated participant. Still, its findings highlight the value of ongoing conversations between patients and clinicians—especially when symptoms change—and of care plans that reflect each person’s health and preferences.

More information and support can be found at https://www.fabrydisease.org/. The National Fabry Disease Foundation. In addition the FSIG Website: www.fabry.org – the Fabry Support and Information Group also serves the Fabry Community, and both groups work to provide valuable and complimentary services to the Fabry Community.