COMMOM SYMPTOMS OF FABRY DISEASE IN MALES
AS THEY PROGRESSIVELY DEVELOP FROM CHILDHOOD THROUGH ADOLESENCE AND
INTO ADULTHOOD
- Episodes of sharp or burning pain in feet and hands
- Hypohidrosis (inability to sweat)
- Intolerance to extreme heat or cold
- Recurrent fever for no reason
- Telangiectases (red spots) of the ear
- Cloudiness in cornea, but unaffected vision
- Whorl like structures in the cornea observed by an opthomologist
- Angiokeratoma (spotted rash) in belt to knee areas (red, blue
or purple colored)
- Stomach or intestinal pain and cramping after meals
- Diarrhea after meals
- Bowel movements frequently (20-25 per day)
- Fatigue
- Decreased blood circulation as age increases
- Renal disease (which can lead to kidney failure)
- Hypertension (high blood pressure)
- Heart attack
- Chest pain or discomfort
- Premature stroke
- Enlarged heart
- Hearing loss and ringing in the ears
FEMALE CARRIERS OF FABRY DISEASE usually
do not have symptoms or they are very mild. The most frequent clinical
findings are whorl like structures in the cornea observed by the opthomologist,
mitral valve prolapse and proteinuria. Occasionally, females can be
as severely affected as males and have the same symptoms.
Fabry Disease symptoms normally begin to show in childhood with episodes
of pain and discomfort in the extremities. These episodes are brought
on by exercise, fatigue, fever, stress, or changes in weather. Also
at an early age, angiokeratoma, hypohidrosis, cloudiness of the cornea
and lens can occur.
The progression of Fabry Disease in adults is rapid. Signs of
damage to the heart and kidney do not begin to manifest until after
the age of 30. Most patients are not diagnosed until heart and kidney
functions have already been compromised.
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