Table 3.

Criteria for phenotypic classification

MenWomen
Classical FD
 A mutation in the GLA geneaA mutation in the GLA gene
 One or more of the following characteristic FD symptoms: Fabry neuropathic pain, angiokeratoma, and/or cornea verticillataOne or more of the following characteristic FD symptoms: Fabry neuropathic pain, angiokeratoma, and/or cornea verticillata
 Severely decreased or absent leukocyte aGAL activity (<5% of the normal mean)
Nonclassical FD
 A mutation in the GLA gene and not fulfilling the criteria for classical FD
  • aGAL, α-galactosidase A.

  • a The following genetic variants were considered no FD (neutral variants): A143T, P60L, D313Y, R118C, T385A, IVS0–10 C>T, and the complex haplotype IVS0–10 C>T/IVS4–16A>G/IVS6–22C>T. In patients in whom classification on the basis of these criteria was not feasible, the final judgement was made by the treating physician.