Skip to main content

Table 2 Early signs and symptoms of Fabry disease

From: Fabry disease

Organ system

Sign/Symptom

Nervous system

Acroparesthesias

 

Nerve deafness

 

Heat intolerance

 

Hearing loss, tinnitus

Gastrointestinal tract

Nausea, vomiting, diarrhoa

 

Postprandial bloating and pain, early satiety

 

Difficulty gaining weight

Skin

Angiokeratomas

 

Hypohidrosis

Eyes

Corneal and lenticular opacities

 

Vasculopathy (retina, conjunctiva)

Kidneys

Microalbuminuria, proteinuria

 

Impaired concentration ability

 

Hyperfiltration

 

Increased urinary Gb3 excretion

Heart

Impaired heart rate variability

 

Arrhythmias

 

ECG abnormalities (shortened PR interval)

 

Mild valvular insufficiency