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?

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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? Should FD be part of the newborn screen?

Created by

CMEducation Resources IQ&A Fabry Disease Diagnostic Intelligence Zone

Presenter

Claire Zar-Kessler, MD

Claire Zar-Kessler, MD

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