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Fabry disease
What are the symptoms?
The classic form, occurring in males with very low levels α-Gal A
activity, usually has its onset in childhood or adolescence with
periodic crises of severe pain in the hands and feet
(acroparesthesias), the appearance of a skin rash (angiokeratomas),
reduced sweating, eye changes bowel disturbance and protein in the
urine. Gradual deterioration of kidney function usually occurs in men.
Males may also develop heart problems such as an enlarged heart and
neurological problems including stroke. Males with a higher level of
enzyme activity often present later in life with predominantly heart or
kidney problems with few of the other symptoms.
Females typically have milder symptoms at a later age of onset than males. However this is very variable; they may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males.
Background
| How is it diagnosed? 
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