Table 2.

Clinical manifestations suggestive for Fabry diagnosis [1, 4, 7, 10, 134–136]

Family history of FD

Ophthalmologic deposits, such as cornea verticillata and cataracts

Anhidrosis or hypohidrosis

Angiokeratomas

Acroparesthesia (chronic neuropathic pain and episodic severe pain crises in distal extremities)

Gastrointestinal disturbances (bloating, diarrhea, abdominal pain)

Unexplained hypertrophic cardiomyopathy  > 30 years for men and > 40 years for women

Personal or family history of renal failure with no cardio-vascular risk factors

End-stage renal disease at a young age

Cryptogenic stroke in patients younger than 50 years

Personal or family history of intolerance to exercise, heat or cold