Fabry's disease pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Pathophysiology

Pathophysiology

Inborn errors in Glycosphingolipids metabolism
By Huckfinne - Own work, Public Domain, https://commons.wikimedia.org/w/index.php?curid=9527371

Genetics

]Gross pathology

Microscopic pathology

On histopathological analysis, these findings are characteristic of Fabry's disease:

  • light microscopy is not as specific in confirming FD as electron microscopy and thus is only done when electron microscopy is unavailable. Lipid staining of a kidney biopsy may demonstrate storage cells within the glomeruli, which proves of little significance.
  • Ultrastructural analysis of the heart and kidney biopsies can reveal lysosomal storage in the endomyocardial and certain renal tubular cells respectively. The ultrastructural appearance of these inclusions is whorled layers of alternating dense and pale material also called zebra bodies.


References

[1]Ishii S, Kase R, Sakuraba H, Suzuki Y. Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease. Biochem Biophys Res Commun. 1993;197:1585–1589. doi: 10.1006/bbrc.1993.2659.