Definite diagnosis of FD | |
---|---|
Males | Females |
GLA mutation | GLA mutation |
+ | + |
AGAL-A deficiency of ≤5% of mean reference value in leukocytes | normal or deficient AGAL-A in leukocytes |
+ | + |
A or B or C | |
A | |
≥1 characteristic FD sign/symptom (Fabry neuropathic pain, cornea verticillata or clustered angiokeratoma)* | |
B | |
an increase of plasma (lyso)Gb3 (within range of males with definite FD diagnosis) | |
C | |
a family member with a definite FD diagnosis carrying the same GLA mutation | |
Uncertain diagnosis of FD | |
Males/Females | |
All patients presenting with a non-specific FD sign (such as LVH, stroke at young age, proteinuria) who do not fulfil the criteria for a definite diagnosis of FD have a GLA GVUS. Further evaluations are needed, following diagnostic algorithms**. | |
Gold standard for uncertain FD diagnoses | |
In subjects with an uncertain FD diagnosis, a GVUS and a non-specific FD sign, the demonstration of characteristic storage in the affected organ (e.g. heart, kidney, aside from skin) by electron microscopy analysis, according to the judgment of an expert pathologist, in the absence of medication that can lead to storage, confirms FD. |