Signs and Symptoms

Because Fabry disease is rare and not always well recognized, its symptoms are sometimes overlooked or attributed to other more common conditions. There are, however, a number of signs and symptoms that people 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)
• 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
• Heart problems (including enlarged heart and heart valve problems)
• Kidney problems
• Nervous system problems, such as stroke
• Psychological issues, such as depression

The graphic below demonstrates how the signs and symptoms may become progressively more serious and numerous as people with Fabry disease get older.

Since Fabry disease is X-linked, it predominantly affects males, although females may have disease manifestations to a greater extent than previously thought. The rates of progression of organ impairment may be slower in females than in males with Fabry disease, and severity of signs and symptoms is variable.

For more detailed information about the signs and symptoms of Fabry disease, visit Genzyme's Fabry Community website at www.fabrycommunity.com.