The most common reason that someone is evaluated for Fabry Disease is because they have a family history. When a patient comes in and tells you that he has a family history of Fabry Disease - it is a simple one. Typically, if a new patient is diagnosed with Fabry Disease there are about 5 affected relatives at risk, so we want to identify all of those people and we want to make sure they get tested.
Second, Angiokeratomas; they’re purple spots, they’re easily overlooked, the key place to look for people with Fabry Disease is in the belly button and the groin but they can also show up on the palms of the hands, on the lips and in other areas. If you see those evaluating for Fabry Disease, there are other causes but Angiokeratomas are most commonly associated with Fabry Disease.
The corneal lesions, I do not expect most pediatricians to identify because general pediatricians often do not have a slit lamp in the practice but if the ophthalmologist reports that there are corneal lesions, corneal whorls or spoke-like lesions and especially if they say ‘typical of Fabry Disease’ that needs to be tested. There are a few other causes, they include antimalarial therapies and some anti-arrhythmic therapies.
Abnormal tissue biopsy; If a child has a kidney biopsy or a skin biopsy and inclusions are noted suggestive of a storage disease, that would be another reason to test for Fabry Disease.