What are the symptoms of Fabry disease?

In ‘classical’ Fabry disease in boys, the first symptoms (usually burning/tingling pain in the hands and feet, gastrointestinal or gut symptoms, and fatigue) appear at under 10 years of age. However, the age of onset varies in girls and from person to person, even within the same family. Symptoms can go unrecognised until adulthood, by which time organs may already be damaged.

Some people can also have a ‘late onset’ form of Fabry disease, in which the symptoms appear in adulthood and are predominantly limited to a single organ, such as kidneys, heart or brain.

Signs and symptoms of Fabry disease over time

Childhood and adolescence
(≥16 years)

  • Nerve pain – burning and tingling pain in the hands and feet
  • Changes in the eye, usually not affecting vision, which may be detected by a doctor
  • Hearing loss or ringing in the ears (tinnitus)
  • Sweating too much or too little, causing sensitivity to heat or cold
  • Gastrointestinal or gut discomfort and pain
  • Lack of energy or feeling tired/fatigued
  • Small, dark red spots on the skin (called angiokeratomas)
  • Start of heart and kidney problems

Childhood and adolescence
(≥16 years)

Early adulthood
(17-30 years)

Along with existing symptoms, the following symptoms can start during early adulthood:

  • Worsening kidney problems (renal insufficiency)
  • Worsening heart problems (cardiomyopathy, in which the heart muscle becomes enlarged or stiff/rigid)
  • More serious brain problems including strokes
  • Changes to the facial features

Early adulthood
(17-30 years)

Later adulthood
(>30 years)

During later adulthood, the existing problems can worsen to include:

  • Heart disease (heart attacks, left ventricular hypertrophy, arrhythmias)
  • End-stage renal disease
  • Strokes
  • Osteopenia and osteoporosis (bone loss)

Later adulthood
(>30 years)

Download a symptom checklist

It is important to remember that not everyone with Fabry disease will get all these symptoms, and some symptoms may be more severe for some people than for others. It is a complex condition and different people are affected differently.

The symptoms described above may also be present in conditions other than Fabry disease. This is why it can be so difficult to diagnose Fabry disease.