Lymph nodes & spleen, nonlymphoma

Spleen-other nonneoplastic disorders

Gaucher disease



Topic Completed: 1 October 2012

Minor changes: 14 June 2021

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PubMed Search: Gaucher disease[TI] spleen[TIAB] free full text[sb]

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Cite this page: Mansouri J. Gaucher disease. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/spleengaucher.html. Accessed October 16th, 2021.
Definition / general
  • Autosomal recessive disease, due to accumulation of glucocerebroside (a sphingolipid) in reticuloendothelial cells in liver, spleen and bone marrow, due to a defect in lysosomal beta glucocerebrosidase
  • Increased risk (14x) of hematologic malignancies and 4x for other malignancies
  • Type 1: chronic nonneuronopathic form - often completely asymptomatic; disease discovered incidentally; does not involve the nervous system, high prevalence among Ashkenazi Jews (1/12 are carriers)
  • Type 2: fatal neurodegenerative disorder of infancy, similar to Tay-Sachs disease
  • Type 3: slowly progressive neurologic disease with survival into adulthood
Case reports
Treatment
  • Glucocerebrosidase (enzyme replacement therapy)
Gross description
  • Massively enlarged spleens up to 10 kg
Microscopic (histologic) description
  • Marked expansion of red pulp
  • Large number of histiocytes with finely fibrillar cytoplasm (crinkled or wrinkled paper-like), particularly in splenic cords
  • White pulp remains intact
Positive stains
Negative stains
Differential diagnosis
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