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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?

Can you provide a real world example of a patient and associated family members with Fabry Disease that you have treated and that illustrates the clinical decision tree that traces the journey from mutational testing to selection of optimal therapy?

Can you provide a real world example of a patient and associated family members with Fabry Disease that you have treated and that illustrates the clinical decision tree that traces the journey from mutational testing to selection of optimal therapy?

How do the neurological symptoms of classical FD present in male vs female populations, and what other concurrent symptoms should the clinician inquire about to corroborate the diagnosis?

How do the neurological symptoms of classical FD present in male vs female populations, and what other concurrent symptoms should the clinician inquire about to corroborate the diagnosis?

Are there prospective studies that, in fact, are designed to evaluate the effects of currently approved chaperone- and ERT-based treatments for FD on the progression of CV complications of FD?

Are there prospective studies that, in fact, are designed to evaluate the effects of currently approved chaperone- and ERT-based treatments for FD on the progression of CV complications of FD?

How early in childhood are the renal manifestations present in classic Fabry in males? What is the natural history of renal dysfunction and what specific metrics related to albuminuria/proteinuria should be followed and increase suspicion of FD?

How early in childhood are the renal manifestations present in classic Fabry in males? What is the natural history of renal dysfunction and what specific metrics related to albuminuria/proteinuria should be followed and increase suspicion of FD?

Once you determine that a male or female patient’s symptoms and/or physical manifestations are consistent with a diagnosis of Fabry Disease, what disciplined, systematic approach to you use to genetic, mutational testing?

Once you determine that a male or female patient’s symptoms and/or physical manifestations are consistent with a diagnosis of Fabry Disease, what disciplined, systematic approach to you use to genetic, mutational testing?

What percentage of patients with FD actually have dermatologic manifestations?

What percentage of patients with FD actually have dermatologic manifestations?

Do all patients with FD have the same propensity to develop Fabry renal disease, and how does the male/female incidence discordance help us make the diagnosis?

Do all patients with FD have the same propensity to develop Fabry renal disease, and how does the male/female incidence discordance help us make the diagnosis?

Can you summarize the current guidelines and/or recommendations from Europe and the U.S. for diagnostic evaluation and treatment of FD?

Can you summarize the current guidelines and/or recommendations from Europe and the U.S. for diagnostic evaluation and treatment of FD?

What are the ophthalmologic findings of FD and how are they temporally related to the dermatologic manifestations of FD?

What are the ophthalmologic findings of FD and how are they temporally related to the dermatologic manifestations of FD?

To improve awareness, suspicion, and diagnostic accuracy for Fabry Disease, can you discuss the expected manifestations of FD based on gender and age? And how do the clinical phenotypes and symptoms segregate among different patient subgroups?

To improve awareness, suspicion, and diagnostic accuracy for Fabry Disease, can you discuss the expected manifestations of FD based on gender and age? And how do the clinical phenotypes and symptoms segregate among different patient subgroups?

Can you discuss some of the less well appreciated manifestations of Fabry Disease—vestibular dysfunction, hearing loss, and autonomic dysfunction—and how their presence can aid in making the diagnosis of Fabry Disease?

Can you discuss some of the less well appreciated manifestations of Fabry Disease—vestibular dysfunction, hearing loss, and autonomic dysfunction—and how their presence can aid in making the diagnosis of Fabry Disease?

Showing 49 - 60 of 82 results

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