Signs and Symptoms

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Fabry disease is a rare disease; therefore, it is not always well recognized. Most symptoms are not specific to Fabry disease and are sometimes overlooked. Therefore, it can take a long time before Fabry disease is diagnosed accurately. There are, however, a number of signs and symptoms that people (children and adults) with Fabry disease may typically experience:

  • Burning, tingling pain in the hands and feet
  • Pain radiating throughout the body
  • Impaired sweating
  • Heat/cold intolerance
  • Skin rashes (angiokeratomas) (see figure below)
  • Corneal whorling (pattern on the cornea of the eye – generally does not affect vision and can only be seen using special eye exam equipment called a slit lamp)
  • Hearing problems
  • Gastrointestinal problems, such as diarrhea or vomiting
  • Cardiac problems (including enlarged heart and heart valve problems)
  • Renal problems
  • Nervous system problems, such as stroke
  • Psychological issues, such as depression
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Links to websites with more information on how to live with Fabry disease.

Expression of Hope

Expression of Hope is a global disease awareness program featuring works of art created by individuals touched by lysosomal storage disorders.