Skip to main content


Table 1 Possible early symptoms of Fabry disease

From: Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

Organ system Sign/Symptom
General Reduced quality of life; reduced well-being; reduced school/work performance and engagement in leisure activities, including sports
  Psychosocial and behavioral deficits
  Poor weight gain
Nervous system Chronic burning pain
  Attacks of excruciating pain
  Sensory losses
  Abdominal cramp, (post-prandial) diarrhoea, bloating, nausea
  Tinnitus, hearing loss
Skin Vascular lesions (angiokeratoma, Figure 1)
Eyes Corneal/lenticular opacities (seen on slit lamp examination, Figure 2)
  Vascular tortuosity (retina, conjunctiva)
Kidneys Microalbuminuria, proteinuria
  Impaired concentration ability
  Increased urinary GL-3 excretion
  Renal hyperfiltration (early), decrease in glomerular filtration rate
Heart ECG abnormalities (for example, short PR interval)
  Arrhythmias, hypertrophic cardiomyopathy (young adults)