2.1. Pediatric presenting symptoms


Half of the kids with Fabry Disease will have pain, in the boys it was close to 60% and often quite severe burning pain in the hands and feet. With females it is a little bit less - about 40% reported pain and the nature of the pain was also different with most of them not having the severe crisis level pain which would be 8 to 10 out of 10. The girls typically report pain severity between 4 and 7, although some of them will have more severe pain. The age of onset reported by the pediatric patients for boys, was about 7 years of age and the girls was about 9 years of age. Boys and girls had an equal risk for reporting GI symptoms, with 27% having some GI symptoms and 19% having diarrhea as a major presenting symptom. Recurrent diarrhea is a significant issue as it results in missed school or in accidents at school, both of which are quite traumatising to young children. Also of note, the age of onset for the boys with GI symptoms was a little bit younger than the age of onset for the pain, so this is something to definitely pay attention to.





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