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Page 2 of 3             Hughes et al. Rare Dis Orphan Drugs J 2024;3:29  https://dx.doi.org/10.20517/rdodj.2024.30

               underlying Fabry disease, highlighting the important role of immunoinflammation in disease progression.
               This important work sheds light on how understanding these immunoinflammatory processes could guide
               new therapeutic strategies aimed at mitigating inflammation and preserving organ function.


               One of the difficulties in managing FD is the lack of biomarkers that directly correlate with disease burden
               and treatment response. In the following article by Aguiar , the focus shifts to biomarkers that could be
                                                                  [8]
               used in clinical practice and may help in decision making regarding diagnosis, monitoring, and
               management, including determining the optimal time to commence treatment. Identifying reliable
               biomarkers is crucial for early detection and intervention, which may significantly alter the disease
               trajectory. This article offers a roadmap for future studies aimed at standardizing biomarker use in the
               management of Fabry disease.


               As we journey through this Special Issue, we move on to a critical discussion of Fabry nephropathy. The
               article by West et al. provides a detailed examination of the renal implications of Fabry disease, particularly
                                                                   [9]
               focusing on the various treatment modalities available today . Drawing on our experiences with enzyme
               replacement therapy and other emerging treatments, there is optimism for improving renal outcomes and
               the quality of life for affected individuals. This article emphasizes the importance of early diagnosis and
               timely therapeutic interventions, reinforcing the notion that while Fabry nephropathy is a serious condition,
               it can be managed with a proactive approach.

               Gastrointestinal manifestations of Fabry disease are often underappreciated but can significantly impact
                                                                [10]
               patients’ quality of life. The article by Politei and Solar  highlights these often-overlooked symptoms,
               ranging from abdominal pain to altered bowel habits. By detailing the prevalence and potential underlying
               mechanisms of gastrointestinal issues in Fabry patients, the authors underscore the necessity for healthcare
               providers to recognize and address these symptoms in a holistic approach to patient care.


               You can  also watch the special interview with Dr. Politei (https://www.oaepublish.com/interviews/rdodj.248).



               Finally, we conclude with an exploration of stroke in Fabry disease. The article by Moreno-Martínez et al.
                                                                                    [11]
               delves into the increased risk of cerebrovascular events in this patient population . Given the devastating
               consequences of strokes, understanding the risk factors and preventive measures is critical. This
               comprehensive review not only discusses clinical implications but also highlights potential pathways
               through which Gb3 accumulation may increase stroke risk, emphasizing the need for a prevention strategy.

               Collectively, these articles advance our understanding of Fabry disease, promoting a multidisciplinary
               approach that incorporates genetic, biochemical, and therapeutic insights. This Special Issue serves as a
               timely reminder of the challenges faced by individuals living with Fabry disease, while also showcasing the
               advancements that open doors to improved diagnostics and therapies.


               In conclusion, we hope that this collection inspires ongoing research and fosters collaboration aimed at
               unraveling the complexities of Fabry disease. By continuing to explore the intersections of genetics,
               immunoinflammation, biomarker development, renal treatment options, gastrointestinal care, and stroke
               prevention, we can better support the Fabry community and enhance patient outcomes. We invite our
               readers to engage deeply with the articles presented in this issue, recognizing the critical role each plays in
               the broader narrative of understanding and managing Fabry disease.
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