Bone marrow - nonneoplastic
Systemic disorders
Fabry disease

Topic Completed: 1 December 2006

Revised: 8 August 2019

Copyright: 2002-2019,, Inc.

PubMed Search: Bone marrow Fabry disease

Nat Pernick, M.D.
Page views in 2018: 320
Page views in 2019 to date: 409
Cite this page: Pernick N. Fabry disease. website. Accessed December 6th, 2019.
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
  • 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:
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)
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