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How often are the dermatologic manifestations of FD the portal of entry into the diagnosis of this condition, and what is the role of the dermatologist for ensuring the diagnosis of FD is made as early as possible?

How often are the dermatologic manifestations of FD the portal of entry into the diagnosis of this condition, and what is the role of the dermatologist for ensuring the diagnosis of FD is made as early as possible?

What have long-term registries taught us about the effects of treatment on mitigating risk and/or progression of target organ deterioration—in particular, of cardiac disease, need for kidney replacement, and/or stroke—in patients with FD?

What have long-term registries taught us about the effects of treatment on mitigating risk and/or progression of target organ deterioration—in particular, of cardiac disease, need for kidney replacement, and/or stroke—in patients with FD?

How do the CV manifestations of FD disease change and/or present during adolescence? And what is the role of cardiac MRI in this age group and how does it help you identify the FD phenotype?

How do the CV manifestations of FD disease change and/or present during adolescence? And what is the role of cardiac MRI in this age group and how does it help you identify the FD phenotype?

What is the rationale for disciplined surveillance systems for FD patients with either asymptomatic CV or those in whom the diagnosis has been confirmed?

What is the rationale for disciplined surveillance systems for FD patients with either asymptomatic CV or those in whom the diagnosis has been confirmed?

Can you provide a synopsis of the inheritance patterns of Fabry Disease, the penetrance of target organ manifestations and symptomatology in men vs. women, and the diagnostic implications of the heterogeneity of this Fabry?

Can you provide a synopsis of the inheritance patterns of Fabry Disease, the penetrance of target organ manifestations and symptomatology in men vs. women, and the diagnostic implications of the heterogeneity of this Fabry?

What is your systematic, step-by-step diagnostic work-up for a young/adolescent male in whom the diagnosis of FD must be considered and/or ruled out? What genetic tests should be performed?

What is your systematic, step-by-step diagnostic work-up for a young/adolescent male in whom the diagnosis of FD must be considered and/or ruled out? What genetic tests should be performed?

What category of mutation—one that is associated with some degree of production of the alpha-galactosidase A (a-Gal A) enzyme—is amenable to the FDA-approved oral chaperone therapy, migalastat?

What category of mutation—one that is associated with some degree of production of the alpha-galactosidase A (a-Gal A) enzyme—is amenable to the FDA-approved oral chaperone therapy, migalastat?

Why is it important—the mandate, in fact—to diagnose FD, and what is the current evidence and/or expert consensus about the use of either chaperone therapy with migalastat or ERT to mitigate progression of FD in the kidney and in other target organs?

Why is it important—the mandate, in fact—to diagnose FD, and what is the current evidence and/or expert consensus about the use of either chaperone therapy with migalastat or ERT to mitigate progression of FD in the kidney and in other target organs?

When you encounter angiokeratomas that you think are characteristic of FD, what is your next step in the diagnostic process? Do you routinely biopsy the lesions? What are the characteristic findings, and do you do genetic testing?

When you encounter angiokeratomas that you think are characteristic of FD, what is your next step in the diagnostic process? Do you routinely biopsy the lesions? What are the characteristic findings, and do you do genetic testing?

Can you construct a diagnostic roadmap—including family history, symptom complexes, and/or biomarker manifestations—for the nephrologist that will optimize detection of FD at the front lines of practice?

Can you construct a diagnostic roadmap—including family history, symptom complexes, and/or biomarker manifestations—for the nephrologist that will optimize detection of FD at the front lines of practice?

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