Bone marrow nonneoplastic
Storage-type histiocytosis
Gaucher disease
Author: Nat Pernick, M.D.
Last author update: 1 December 2006
Last staff update: 6 April 2023 (update in progress)
Copyright: 2002-2023, PathologyOutlines.com, Inc.
PubMed Search: Gaucher disease [title] bone marrow
Table of Contents
Definition / general | Case reports | Treatment | Clinical images | Microscopic (histologic) description | Microscopic (histologic) images | Peripheral smear description | Positive stains | Negative stains | Differential diagnosisCite this page: Pernick N. Gaucher disease. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/bonemarrowgaucher.html. 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:
- Acute neuronopathic type
- Fatal neurodegenerative disorder of infancy, similar to Tay-Sachs disease (OMIM: Gaucher Disease, Type II)
- Type 3:
- Subacute neuronopathic (juvenile) type
- Slowly progressive neurologic disease with survival into adulthood (OMIM: Gaucher Disease, Type III)
Case reports
- 7 year old boy with massive splenomegaly (University of Pittsburgh: A 7 Year Old Boy with Massive Splenomegaly)
- 14 year old boy with splenomegaly (Arch Pathol Lab Med 2000;124:1239)
- 73 year old man with Gaucher disease and splenic lymphoma (Arch Pathol Lab Med 2003;127:e242)
- 85 year old man with multiple lytic bone lesions (Arch Pathol Lab Med 2005;129:e148)
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
- Iron, CD68 (Am J Clin Pathol 2004;122:359), PAS (may be weak)
- Also TRAP, nonspecific esterase, CD36 but variable CD14 (Hum Pathol 1992;23:1410)
Negative stains
- Phospholipids stains, acid fast stains, CD11b, CD40
Differential diagnosis
- Chronic myelogenous leukemia
- Histiocytic disorders
- Mycobacteria infection: see J Clin Pathol 2005;58:1113
- Other lipid storage diseases
- Type II congenital dyserythropoietic anemia and thalassemia have similar looking cells
- Whipple disease
