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 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
Links to websites with more information on how to live with Fabry disease.
Expression of Hope is a global disease awareness program featuring works of art created by individuals touched by lysosomal storage disorders.