Fabry Disease - Rare Disease Quick Facts


Fabry disease is an X-linked lysosomal storage disorder that leads to excessive deposition of globotriaosylceramide ( GL-3) throughout the body. Skin, eye, kidney, heart, brain, and peripheral nervous system are highly vulnerable. Fabry disease is often difficult to diagnose since signs and symptoms are often nonspecific.


Many symptoms associated with Fabry disease are nonspecific making it a difficult disease to diagnosis. Not all symptoms may appear nor develop in any particular order. However, younger patients may have some or all of the following:

As patients get older, other symptoms may also appear, including:



Patient Organizations


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