Bone marrow nonneoplastic

Storage-type histiocytosis

Gaucher disease



Topic Completed: 1 December 2006

Minor changes: 1 September 2021

Copyright: 2002-2019, PathologyOutlines.com, Inc.

PubMed Search: Gaucher disease [title] bone marrow

Nat Pernick, M.D.
Page views in 2020: 4,406
Page views in 2021 to date: 4,136
Cite this page: Pernick N. Gaucher disease. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/bonemarrowgaucher.html. Accessed December 3rd, 2021.
Definition / general
  • Autosomal recessive disease due to accumulation of glucocerebroside / glucosylceramine (a sphingolipid) in reticuloendothelial cells in liver, spleen and bone marrow, due to a defect in lysosomal beta glucocerebrosidase (Wikipedia: Gaucher's Disease)
  • Increased risk of 14x for hematologic malignancies and 4x for other malignancies
  • Confirm diagnosis with absence of glucocerebrosidase in peripheral blood monocytes
  • Type I:
    • Chronic nonneuronopathic (adult) type
    • 99% of all cases
    • Often completely asymptomatic
    • Disease discovered incidentally
    • Does not involve the nervous system
    • High prevalence among Ashkenazi Jews (1/12 are carriers)
    • Most patients have splenomegaly, anemia, thrombocytopenia and radiographic evidence of bone lesions (OMIM: Gaucher Disease, Type I)
  • Type 2:
  • Type 3:
Case reports
Treatment
  • Glucocerebrosidase enzyme replacement therapy (imiglucerase)
  • Bone marrow transplantation
Clinical images

Images hosted on other servers:

Marked splenomegaly

Microscopic (histologic) description
  • Small focal accumulations or diffuse replacement by ovoid histiocytes 20 - 90 microns, with abundant, finely fibrillar, pale blue gray cytoplasm that is crinkled or wrinkled paper-like
  • Small nucleus with coarse chromatin and indistinct nucleolus
  • Increase in reticulin fibers
  • Treated patients have decrease in size and number of Gaucher cells
Microscopic (histologic) images

Images hosted on other servers:

Gaucher or pseudo gaucher cells

Nuclear debris and erythrophagocytosis

Gaucher cells

Bone marrow biopsy


Gaucher cells and HIV

Histiocytes with needle-like inclusions

Iron stain

PAS stain

CD68

Peripheral smear description
  • Large 30 - 100 micron cell with fibrillary pale blue to eosinophilic cytoplasm, often with hemosiderin
  • One or more nuclei
Positive stains
Negative stains
Differential diagnosis
Back to top
Image 01 Image 02