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. 2010 Apr;30(2):87–93.

Table I. Main clinical features of Fabry patients.

# 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20
Patient FC* FbV GC MR MG GS FS** GS** IS** AC* FaV AMC MTM* GS** RS** MC AP AC SG RR
Sex M M M M M M M M M M M F F F F F F F F F
Angiokeratoma + + ++ + +++ ++ + + + + + + +
Pain + ++ + + + +++ +++ + + + + ++ + ++ + + +
Crisis of fever ++ +++ +
Vascular skin lesions + + ++ ++ + +
Ocular feature + + + + + ++ ++ + + + + ++ + + +
Renal failure + + +++ ++ + + +++ + + +++ + +++ + + + + +
Hypertrophic cardiomyopathy + + + + + ++ + + ++ + + +
Lymphoedema ++ ++ + +++ + + + ++ +
CNS TIA +
Complaint of hearing loss Yes Yes Yes Yes Yes Yes Yes
% of enzymatic activity 3 2 9 9 9 2 1 1 1 5.5 2 24 23.5 7.15 31.5 18 35 27 9 28

*, , , , **: relatives; CNS: central nervous system; TIA: transient ischaemic attack; Sign/symptom severity: – none; + mild; ++ moderate; +++ severe.