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Claire Zar-Kessler, MD

Claire Zar-Kessler, MD

Medical Director, Pediatric Neurogastroenterology Program
Instructor, Harvard Medical School
Mass General Hospital for Children
Boston, MA

Since a heterogeneous range of GI symptomatology is associated with Fabry Disease, can you discuss the spectrum of symptoms that are encountered?

Since a heterogeneous range of GI symptomatology is associated with Fabry Disease, can you discuss the spectrum of symptoms that are encountered?

Claire Zar-Kessler, MD

What are the specific GI symptoms encountered in patients with FD? And what specific symptom patterns should alert the clinician that FD should be excluded in the differential diagnosis?

What are the specific GI symptoms encountered in patients with FD? And what specific symptom patterns should alert the clinician that FD should be excluded in the differential diagnosis?

Claire Zar-Kessler, MD

At what age can FD-consistent GI manifestations first emerge? What is the most frequent misdiagnosis of GI symptoms that, in retrospect, were the first signs of FD in an individual patient?

At what age can FD-consistent GI manifestations first emerge? What is the most frequent misdiagnosis of GI symptoms that, in retrospect, were the first signs of FD in an individual patient?

Claire Zar-Kessler, MD

What is the differential diagnosis of the non-specific GI symptoms reported by patients with FD, and what entities must be systematically excluded as part of the work-up for the non-specific manifestations of FD?

What is the differential diagnosis of the non-specific GI symptoms reported by patients with FD, and what entities must be systematically excluded as part of the work-up for the non-specific manifestations of FD?

Claire Zar-Kessler, MD

Can you focus on the earliest age group in which GI symptoms of FD can plausibly be detected?

Can you focus on the earliest age group in which GI symptoms of FD can plausibly be detected?

Claire Zar-Kessler, MD

How does deficiency of the lysosomal enzyme, alpha-galactosidase A lead to GI symptoms? What is the GI-related pathobiology of Fabry Disease? Through what vascular, tissue, and neuropaths mechanisms does GL-3 accumulation cause GI symptoms?

How does deficiency of the lysosomal enzyme, alpha-galactosidase A lead to GI symptoms? What is the GI-related pathobiology of Fabry Disease? Through what vascular, tissue, and neuropaths mechanisms does GL-3 accumulation cause GI symptoms?

Claire Zar-Kessler, MD

Is there evidence that treatment of Fabry Disease—either with migalastat-based chaperone therapy or ERT—is capable of mitigating progression of GI symptoms?

Is there evidence that treatment of Fabry Disease—either with migalastat-based chaperone therapy or ERT—is capable of mitigating progression of GI symptoms?

Claire Zar-Kessler, MD

Other than ERT and chaperone therapy, what other pharmacologic interventions are effective and safe for treating the GI symptoms of FD?

Other than ERT and chaperone therapy, what other pharmacologic interventions are effective and safe for treating the GI symptoms of FD?

Claire Zar-Kessler, MD

Can you discuss a specific adult patient who came to you with GI symptoms and confirmed Fabry Disease, in whom therapeutic intervention improved their GI manifestations and quality of life?

Can you discuss a specific adult patient who came to you with GI symptoms and confirmed Fabry Disease, in whom therapeutic intervention improved their GI manifestations and quality of life?

Claire Zar-Kessler, MD

How often are GI symptoms the portal for entertaining and confirming the diagnosis of FD?

How often are GI symptoms the portal for entertaining and confirming the diagnosis of FD?

Claire Zar-Kessler, MD

With respect to screening for FD in the pediatric age group, what features of the family history should be elicited in order to guide the diagnostic evaluation, including enzyme activity levels and genetic testing?

With respect to screening for FD in the pediatric age group, what features of the family history should be elicited in order to guide the diagnostic evaluation, including enzyme activity levels and genetic testing?

Claire Zar-Kessler, MD

Based on Registry Data for Fabry Disease, what have we learned about the importance of GI symptoms—including gender-based differences—in the context of improving awareness of FD as a condition for which we should screen?

Based on Registry Data for Fabry Disease, what have we learned about the importance of GI symptoms—including gender-based differences—in the context of improving awareness of FD as a condition for which we should screen?

Claire Zar-Kessler, MD