4.2. When to look for Fabry (Step 3)


If you want to be the physician who makes the difficult call and who is the hero for the family these are the times when you will think of it. In pediatric patients particularly chronic or recurrent diarrhea without evidence of an acute illness, no fever, no nausea, just diarrhea and especially if it’s post meals. That’s a time to consider Fabry Disease.

If you have a child who can’t tolerate exercise or hot weather due to decreased sweating, think of Fabry Disease in addition to things like ectodermal dysplasia.

Chronic fatigue is very non-specific and that by itself probably doesn’t warrant testing, but if you have chronic fatigue and you ask about recurrent abdominal distress or decreased sweating and you get positive history of those things think of Fabry Disease.

Family history, not just specifically stating a family history of Fabry Disease,  but if you get a family history of early strokes, renal disease in multiple individuals or of heart disease, and especially if that’s accompanied by pain in the hands or feet, either in the child you’re examining or in the affected family members, you should think this could be Fabry Disease.







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