Chapter B: Fabry Disease

Fabry Disease is a fairly rare disorder. The classical form of Fabry Disease, which is what you’re worried about in children is only about one in every 40,000, but it does tend to cluster so if a pediatrician finds one in a family they’re likely to have more than one patient. 

The focus of this chapter is to emphasise the role pediatricians could play in the care management of children with Fabry Disease. The pediatrician's role is first to recognise that there is a problem; second to ensure that the evaluation is done and that it is appropriately instituted; to follow up on the results of whatever the initial evaluation is; to see that appropriate interventions are implemented; and monitor the response to those implementations.





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