Fabry disease

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

General

Presentation

Tx

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

Microscopic

Features:[2]

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

Images

www:

EM

Features:[2]

  • 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:[2]
    • Amiodarone.
    • Aminoglycosides.
    • Chloroquine.

See also

References