Bone marrow - nonneoplastic
Systemic disorders
Fabry disease

Author: Nat Pernick, M.D. (see Authors page)

Revised: 28 June 2017, last major update December 2006

Copyright: (c) 2002-2017, PathologyOutlines.com, Inc.

PubMed Search: Bone marrow Fabry disease

Cite this page: Fabry disease. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/bonemarrowfabry.html. Accessed August 21st, 2017.
Definition / general
  • Also called alpha galactosidase A deficiency, angiokeratoma corporis diffusum universale
  • X linked (Xq22.1) recessive lysosomal storage disease that affects 1 per 40,000
  • Due to deficiency in lysosomal alpha galactosidase A, which catabolizes neutral glycosphingolipids
  • High penetrance in hemizygous males with symptoms at infancy or childhood
  • Heterozygous females have later age of presentation, more variable severity due to lyonization of X chromosome
    • May have normal leukocyte alpha galactosidase A activity
  • Deficiency causes intracellular accumulation of galabiosylceramide (ceramide trihexoside) and digalactosyl ceramide within skin, renal glomeruli and tubular epithelium, blood vessels, corneal epithelium, myocardium and ganglion cells
  • Frequently misdiagnosed
Case reports
Treatment
  • Recombinant human alpha galactosidase A replacement therapy has only a modest effect, perhaps due to heterogeneous distribution (Mol Genet Metab 2007;90:307)
Microscopic (histologic) description
  • Cells with small globular, lightly eosinophilic inclusions
Microscopic (histologic) images

Images hosted on other servers:

Kidney: podocytes are diffusely distended by intracytoplasmic vacuoles; scattered foam cells in interstitium

Kidney: PAS shows podocytes with foamy cell change


Lymph nodes: reactive hyperplasia

Positive stains
Electron microscopy description
  • Characteristic single membrane bound intracellular inclusions (myelin-like figures, zebra bodies) that are 0.1 to 10 microns in diameter
  • Round and lamellated with concentric electron dense layers
  • Found in:
Electron microscopy images

Images hosted on other servers:

Myelin-like inclusions

Differential diagnosis of foam cell change
  • Fucosidosis
  • Gangliosidoses
  • Gaucher disease
  • Mucopolysaccharidoses: all have different intracellular distribution and ultrastructural features of inclusions, can detect by laboratory assays
  • Treatment with chloroquine, amiodarone or aminoglycosides: have similar myelin-like figures (Hum Pathol 2003;34:285)