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. 2022 Mar 2;17:90. doi: 10.1186/s13023-022-02215-x

Table 1.

Signs and symptoms of Fabry disease [1, 39, 4246]

Organ system Clinical manifestations (signs/symptoms)
Pediatric Adult
Peripheral neuropathy Neuropathic pain (Fabry crises) Present or past experience of neuropathic pain
Hypohidrosis, heat intolerance Hypohidrosis, heat intolerance
Hearing loss, vertigo Hearing loss, vertigo
Nausea, vomiting, diarrhea Nausea, vomiting, diarrhea
Abdominal pain Abdominal pain
Postprandial bloating and pain, early satiety Postprandial bloating and pain, early satiety
Difficulty gaining weight Difficulty gaining weight
Cerebrovascular involvement Cerebral microvascular ischemic involvement Significant white matter lesions
Transient ischemic attacks
Ischemic strokes
Neuropsychiatric phenotype
Renal Microalbuminuria, proteinuria Albuminuria overt proteinuria
Progressive chronic kidney disease
Kidney failure
End-stage renal disease necessitating renal replacement treatments
Cardiac Impaired heart rate variability Left ventricular hypertrophy
Arrhythmias Hypertrophic cardiomyopathy
ECG abnormalities (shortened PR interval) Cardiac arrhythmias
Mild valvular insufficiency Valvular disease
Aortic dilatation at Valsalva sinuses
Dermatological Angiokeratomas Angiokeratomas
Sweating abnormalities (hypohidrosis) Linear telangiectasia
Lymphedema
Hypotrichosis
Ocular Corneal deposits (cornea verticillata) and lenticular opacities Corneal deposits (cornea verticillata) and lenticular opacities
Vasculopathy (conjunctiva, retina) Vasculopathy (conjunctiva, retina)