Getting Diagnosed

The challenge of diagnosing a rare disease

The earlier Fabry disease is diagnosed, the sooner healthcare providers can intervene and help manage its symptoms and disease-related complications. However, because Fabry disease is rare and its symptoms are not well recognized or may be mistaken for those of other illnesses, diagnosis of Fabry disease is often delayed. In the Fabry Registry, the age of symptom onset has been reported to be 13 years in females, 9 years in males.

Symptoms that might be Fabry disease

The following symptoms are common to Fabry disease, and a cluster of these may prompt physicians to suspect and test for Fabry disease:

  • Burning pain in hands and feet
  • Episodes of intense pain ("Fabry crises")
  • Gastrointestinal symptoms
  • Fatigue
  • Heat or cold intolerance
  • Reduced sweating (hypohidrosis) or lack of sweating (anhidrosis)
  • Purple rash in the midriff area (angiokeratomas)
  • Hearing loss or ringing in the ears
  • Corneal whorling (something an eyecare specialist might find; it typically does not affect vision)

If you or a family member experience one or more of these symptoms, talk to your doctors and be sure to call his or her attention to Fabry disease.

Learn more about symptoms »

Diagnosing Fabry disease

Fabry disease is relatively easy to diagnose once suspected. In males, a lack of alpha-GAL activity shows they have inherited the altered gene. Males can usually be diagnosed through a blood test called an enzyme assay that measures the amount of alpha-GAL in the blood.

Females, however, can have normal amount of alpha-GAL and still carry the altered gene. Since the X-inactivation pattern may be different in different organs such as the heart or kidney, females may have one or more severely affected organs, but still have nearly normal alpha-GAL in their blood. For this reason, a genetic test is needed for an accurate diagnosis.

Find questions to ask your doctor »

The importance of getting tested

If you have (or someone you care for has) symptoms that might point to Fabry disease, your doctor can help you decide whether to get tested for Fabry disease. If someone in your extended family has been diagnosed with Fabry disease, a genetic counselor can help you determine the chances that you or your family members may carry the altered gene. Speak with your doctor or a genetic counselor about testing for Fabry disease.