WORLDSymposium 2026: Fabry disease care gaps

By Agata Buczak

People living with Fabry disease (FD) report substantial multisystem symptom burden and ongoing challenges across the care pathway, with female patients describing more frequent symptoms than male patients and communication gaps evident across multiple regions, according to data presented at WORLDSymposium 2026 (We’re Organizing Research on Lysosomal Diseases).

Addressing gender-specific differences in FD, Dawn Laney (Emory University, Atlanta, Georgia, USA) presented results from a cross-sectional survey of 238 adults in the USA and Canada, demonstrating that women reported 22 of 25 symptoms more frequently than men. Daily fatigue, heat‑ or exercise‑related pain, tingling, heat intolerance, and brain fog were among the most common and burdensome symptoms.

Women were also more often diagnosed later and more frequently managed primarily by geneticists, while men were more commonly under nephrology‑led care. Although overall treatment rates were similar, women were more likely to be treatment‑naive, whereas men were more likely to have discontinued therapy. Reflecting on the gender-specific variations identified, Laney stated: “There is a need for comprehensive, proactive management and ongoing multisystem monitoring in female patients with FD… particularly before severe symptom presentation, to minimize disease burden.”

Complementary insights were shared by Mary Pavlou (Public Hospital, Athens, Greece), who presented early findings from an ongoing mixed‑methods study across seven countries. Preliminary findings revealed significant communication gaps throughout the disease journey. Participants reported inadequate communication at diagnosis, limited follow‑up discussions about disease progression, and a lack of coordinated care, with 32% of patients expressing dissatisfaction with communication between specialists.

The study also showed that while cardiac, renal, and neurologic involvement typically dominate clinical conversations, symptoms such as pain, fatigue, and gastrointestinal issues received less attention. As a result, many patients rely on patient organizations for practical information and support. Psychological support needs were also frequently unmet. Pavlou concluded: “Collaborative solutions between patients, healthcare professionals, and organizations are essential to bridge existing gaps and improve [patient] outcomes.”

Together, these findings highlight the disproportionate symptom burden experienced by women with FD and the communication challenges reported across the Fabry care journey. The presenters conclude that proactive monitoring and more collaborative, patient-centered approaches are needed.

Read more about evolving targeted approaches to treating FD.

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