What are the signs & symptoms of Fabry disease?

Fabry disease is associated with a wide range of symptoms that can vary from day-to-day and person-to-person.

Signs and symptoms of Fabry disease have been reported to begin at an early age, with a mean age of symptom onset of approximately 7 and 8 years in boys and girls respectively.

The signs and symptoms of Fabry disease affect a diverse range of organs and may include:

Fabry disease symptoms include chronic fatigue, acute pain, heat and cold intolerance and kidney problems

Early symptoms often appear in childhood, and include chronic neuropathic pain, acute pain crises, heat and cold intolerance, and fatigue.

Disease progression leads to a variety of systemic manifestations, including renal disease, cardiomyopathy and stroke; and are often accompanied by depression.

The progressive nature of Fabry disease means symptoms may become more frequent and severe with age.

How is Fabry disease diagnosed?

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Watch a brief video about Fabry disease.
Fabry disease diagnosis is often delayed due to the lack of specificity in symptoms. Average onset of diagnosis is 13.7 years in men and 16.3 years in women
Fabry disease hereditary and inheritance infographic. Learn about the genetic factors.
View the signs and symptoms of Fabry disease and their multi-systemic effects
If you suspect you have Fabry Disease print this out to discuss with your doctor.
Fabry disease hereditary and inheritance infographic. Learn about the genetic factors.
Fabry disease is managed through symptom control and effective therapies
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This leaflet aims to answer some of the questions you may have about the causes, inheritance and treatment of Fabry disease.