Table of Contents
Definition / general | Case reports | Treatment | Gross description | Microscopic (histologic) description | Positive stains | Negative stains | Differential diagnosisCite this page: Mansouri J. Gaucher disease. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/spleengaucher.html. Accessed March 22nd, 2023.
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
- 73 year old man with splenic marginal zone lymphoma that progressed to diffuse large B cell lymphoma (Arch Pathol Lab Med 2003;127:e242)
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
Negative stains
- Phospholipid stains, acid fast stains
Differential diagnosis
- Chronic myelogenous leukemia: similar looking cells
