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

Table 1 Possible early symptoms of Fabry disease

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
	Paresthesias/dysesthesias
	Sensory losses
	Hypohidrosis/anhidrosis
	Abdominal cramp, (post-prandial) diarrhoea, bloating, nausea
	Tinnitus, hearing loss
	Dizziness
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)

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