A Review of Fabry Disease

Brandon Chan; David N. Adam, MD, FRCPC, DABD


Skin Therapy Letter. 2018;23(2):4-6. 

In This Article

Differential Diagnosis

For both males and females, at least one of the following is required for a definite FD diagnosis: FD-specific distribution of AGK or neuropathic pain, cornea verticillata, or increased plasma GL3. For males, a GLA mutation resulting in less than 5% leukocyte AGAL enzyme activity is also required for diagnosis. Family history of FD can be predictive, and urinalysis can be used to detect proteinuria. However, in the presence of a non-FD-specific distribution of AGK, pain, or cornea verticillata, and a GLA mutation of unknown significance, a definitive FD diagnosis cannot be established and alternative diagnoses should be considered.[13]

Dermoscopy can identify multiple lesions when they are not visible to the naked eye or when multiple AGKs are surrounding one distinct lesion.[11]