Proposed criteria for a definite, classical diagnosis of Fabry disease (FD)
| Criteria for use in clinical setting, that is, a definite diagnosis of Classical FD | |
|---|---|
| Male | Female |
| A confirmed variant in the GLA gene (any GLA variant, including GVUS) | |
| AND | AND |
| Severely decreased or absent leukocyte AGAL-A activity* combined with a minimum of 1 of the following criteria: acroparesthaesia; cornea verticillata; angiokeratoma; increased plasma lysoGb3 or plasma Gb3 (if lysoGb3 is not available) in the range of ‘Classical’ FD males or an affected family member with a definite diagnosis according to the above criteria | A minimum of 1 of the following criteria: acroparesthaesia; cornea verticillata; angiokeratoma; increased plasma lysoGb3 in the range of ‘Classical’ FD males or an affected family member with a definite diagnosis according to the above criteria |
| Uncertain FD diagnosis: The individual does not fit the criteria for a definite diagnosis of Classical FD. Further evaluations are needed, following the diagnostic algorithm. | |
GVUS, genetic variants of unknown significance.