Criteria for classification of screen positive individuals
| Criteria as used for review of the included studies | |
|---|---|
| Male | Female |
| For inclusion as screen positive, a confirmed variant in the GLA gene is required | |
| Classical: Severely decreased or absent leukocyte AGAL-A activity* AND/OR a minimum of one of the following characteristics: acroparesthaesia; cornea verticillata; angiokeratoma | The individual or an affected family member showed a minimum of one of the following characteristics: acroparesthaesia; cornea verticillata; angiokeratoma |
| Uncertain/neutral: The individual does not fit the criteria for ‘Classical’ | |
| Unknown: Insufficient information in the paper | |
*A severely decreased or absent leukocyte AGAL-A activity, defined as <5% of the mean or, if a mean is unavailable, the middle value of the range. This cut off value of 5% was based on the AGAL-A activity in the Dutch cohort of classical FD patients (data not shown) measured as previously described.18
FD, Fabry disease.