Fabry disease

Fabry disease is a rare X-linked lysosomal storage disease that leads to renal failure.

General

• 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.

Presentation

• Women: usually proteinuria.
• Men: angiokeratomas, proteinuria.

Tx

• Symptomatic treatment.
• Enzyme replacement - agalsidase alpha (Replagal) or agalsidase beta (Fabrazyme).

Microscopic

Features:

• Foamy podocyte inclusions, best visualized with toluidine blue.
• Mild mesangial hypercellularity.

Images

www:

• Fabry disease (upmc.edu).
• Fabry disease - several images (upmc.edu).

EM

Features:

• Myelin-like inclusions.
  • Concentric bodies with an onion-skin-like appearance.
• Zebra bodies.
  • Ovoid inclusions with striped pattern.

Note:

• Myelin-like inclusion are not pathognomonic for Fabry disease; they may result from drug use:
  • Amiodarone.
  • Aminoglycosides.
  • Chloroquine.

See also

• Medical kidney diseases.