From Libre Pathology
- Rare X-linked genetic disease.
- Caused by defect in alpha-galactosidase A gene (GLA gene).
- Women partially affected
- Lysosomal storage disorder - 2nd in prevalence only to Gaucher disease.
- Multisystem disease affecting small vessels and kidney.
- Women: usually proteinuria.
- Men: angiokeratomas, proteinuria.
- Symptomatic treatment.
- Enzyme replacement - agalsidase alpha (Replagal) or agalsidase beta (Fabrazyme).
- Foamy podocyte inclusions, best visualized with toluidine blue.
- Mild mesangial hypercellularity.
- Myelin-like inclusions.
- Concentric bodies with an onion-skin-like appearance.
- Zebra bodies.
- Ovoid inclusions with striped pattern.
- Myelin-like inclusion are not pathognomonic for Fabry disease; they may result from drug use: