Disease progression in Fabry disease
There is no typical progression - over 150 gene mutations influence the timing and severity of symptoms.
Children:
First symptoms usually at school age: burning pain, feverish episodes, reduced sweating and reddish skin patches in the navel and genital area.
Teenagers:
Skin changes (angiokeratomas) increase. Frequent abdominal pain, nausea, diarrhea and signs of incipient kidney damage.
Adults:
Heart problems with arrhythmia, shortness of breath and increased risk of heart attack or stroke. Kidney function often deteriorates severely, making dialysis or transplantation necessary. Headaches and tinnitus also occur.