Bone marrow nonneoplastic

Storage-type histiocytosis

Gaucher disease

Last author update: 1 December 2006
Last staff update: 6 April 2023 (update in progress)

Copyright: 2002-2023,, Inc.

PubMed Search: Gaucher disease [title] bone marrow

Nat Pernick, M.D.
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Cite this page: Pernick N. Gaucher disease. website. Accessed June 2nd, 2023.
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
  • 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

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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


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
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