Fabry disease is a genetic condition that has the potential to affect most parts of the body causing a wide variety of possible symptoms.
Possible symptoms of Fabry
Eyes
- A whorled pattern in the cornea
- Fabry cataracts
Heart
- Irregular heartbeat
(fast or slow) - Heart attack or heart failure
- Enlarged heart
Skin
- Sweating less than normal or not being able to sweat
- Small dark red spots called angiokeratomas, particularly between belly button and knees
Nervous system
- Pain
- Hearing loss, ringing in the ears
- Intolerance to heat, cold, or exercise
- Transient ischemic attack (TIA) and stroke
- Pain in the hands and feet
- Vertigo/feeling dizzy
Kidneys
- Protein in the urine
- Decreased kidney function
- Kidney failure
Gastrointestinal
- Nausea, vomiting, cramping, and diarrhoea
- Pain/bloating after eating, feeling full after a small amount of food
- Constipation
- Difficulty managing weight
As a result of other symptoms and potentially due to the disease itself, people with Fabry may also experience: depression; anxiety; panic attacks; and social problems
Fabry affects everyone differently, some people with Fabry experience no symptoms, others are severely affected, and everyone else falls somewhere in-between.
The type and severity of symptoms, as well as the age they develop, varies between individuals – even those within the same family. This means, if you have Fabry, your experience could be very different from that of a relative with Fabry.
It is this variability of symptoms, as well as their overlap with more common conditions, combined with how rare Fabry is, that often makes getting a Fabry diagnosis difficult based on symptoms alone.
Fabry is a progressive disease, meaning it can get worse over time, potentially resulting in serious or life-threatening complications. However, this won’t be the case for everybody.