2. Symptoms in children


The first symptom in most children is pain. The pain typically presents as burning pain in the hands and feet, although you can also get abdominal pain. The second most common symptom in children is gastrointestinal, that can be abdominal pain, which is a very non-specific feature, but it can also be recurrent diarrhea or in some cases gastroparesis with nausea, the nausea typically most severe in the morning. Occasionally you’ll have children who present with either Angiokeratomas or the purple spots, or with decreased sweating as their first presenting concern. Pediatricians need to look at these first symptoms, and notice the numbers on the cardiac, renal and cerebrovascular. This data was taken from the Fabry registry and this particular run included several hundred pediatric aged patients, and you’re looking at very small numbers for the major, potentially life-threatening organ involvement, which means those are not going to be the tip offs in most cases for a pediatric disease.





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