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:

cardiological symptoms of fabry diseaseCirculatory System
Conduction abnormalities, arrhythmia, left ventricular hypertrophy, ischaemia
ophthalmological symptoms of fabry diseaseEyes
Cornea verticillata, tortuous retinal blood vessels
nephrological symptoms of fabry diseaseKidneys
Cysts, albuminuria, proteinuria, progressive renal failure
auditory symptoms of fabry diseaseEars and Hearing
Hearing impairment, vertigo, tinnitus
gastroenterological symptoms of fabry diseaseDigestive System
Abdominal pain, nausea, vomiting, constipation, diarrhoea
neurological symptoms of fabry diseaseBrain
Transient ischaemic attack, stroke, neuropsychiatric problems
dermatological symptoms of fabry diseaseSkin
nervous system symptoms of fabry diseaseNervous System
Acroparesthesia, hypohidrosis, temperature sensitivity

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?

Play Video
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
This leaflet aims to answer some of the questions you may have about the causes, inheritance and treatment of Fabry disease.