Skip to main content

Table 1 Signs and symptoms of Fabry disease [1, 39, 42,43,44,45,46]

From: Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective

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)