Symptoms

Individuals with Fabry Disease can have a range of symptoms.  Because the symptoms are so wide ranging, it can be a long journey to diagnosis unless a family member is already known to have Fabry. A surprising number of clinicians have still not heard of Fabry Disease and it can be mis-diagnosed.

 

Fabry Disease Symptoms include:

  • Severe pains in hands and feet

  • Intolerance to the heat or the cold

  • Frequent childhood illnesses, such as viruses, often with high temperatures

  • Unexplained fatigue

  • Exercise intolerance

  • Reduced ability to sweat during exertion

  • Whorl patterns or cloudiness in eyes

  • Ringing in Ears

  • Loss of hearing

  • Digestive problems, including having to go the toilet immediately after eating, episodes of diarrhoea, vomiting

  • Inability to put on weight

  • Depression

  • Raised red, purple or blue-black rash, known as angiokeratoma, on various parts of the body

  • Heart Issues

  • Kidney Problems

  • White matter lesions in brain

  • Trans Ischaemic Attack (TIA) or Stroke