Table 3

Prevalence of individuals with a GLA variant and ‘Classical’ Fabry disease (FD)

PublicationRecalculation
PopulationStudies nScreened n (M/F/NS)Screen positive n (M/F)prevalence % (M/F)Classical n (M/F)Uncertain/Neutral n (M/F)Unknown n (M/F)Classical prevalence % (M/F)
HCM124225 (3081/1044/100)48 (33/15)1.14 (1.07/1.44)11 (4/7)30 (23/7)7 (6/1)0.26 (0.13/ 0.67)
ESRD2219234 (12415/6672/147)58 (46/12)0.30 (0.37/0.18)21 (20/1)32 (21/11)5 (5/0)0.11 (0.16/0.01)
Stroke/SFN94193 (2565/1628)67 (33/34)1.60 (1.29/2.09)1 (0/1)21 (6/15)45 (27/18)0.02 (0.00/0.06)
Other2513 (499/14)1 (0/1)0.19 (0.00/7.14)01 (0/1)00.00
Total4528165 (18560/9358/247)174 (112/62)0.62 (0.60/0.66)33 (24/9)84 (50/34)57 (38/19)0.12 (0.13/0.10)
  • ESRD, end stage renal disease; HCM, hypertrophic cardiomyopathies; NS, gender not specified; SFN, small fibre neuropathy.