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Gaucher's disease: Cytochemical diagnosis

Gaucher's disease: Cytochemical diagnosis
#00063488
Author: DR. RUPALI PARIKH, BHATIA HOSPITAL, MUMBAI
Category: Laboratory Hematology > Basic cell morphology > Morphologic variants of white blood cells > Histiocyte/macrophage – storage disease
Published Date: 04/01/2021

A 24‐year‐old woman presented with history of epistaxis. Examinations showed low platelet count (29000/cmm). There was no organomegaly on ultrasound examination. Bone marrow biopsy and aspiration demonstrated histiocytes with wrinkled paper‐like fibrillar cytoplasm, occupying 25% of the marrow cellularity (Figure A). These cells were diffusely positive for PAS stain on bone marrow
biopsy sections (Fig B) and for Prussian blue iron stain on bone marrow aspiration smears (Figure C-D).
Gaucher's disease is one of the most common lysosomal storage disorder that occurs due to mutations in the gene encoding glucocerebrosidase. The glucocerebrosidase enzyme, which cleaves glucose from ceramide, is markedly reduced or absent. This results in accumulation of glucocerebroside, primarily in phagocytic cells. Of the various subtypes, the most common form seen is type I,or the chronic non‐neuronopathic form which is inherited in an autosomal
recessive fashion and can manifests in adulthood. 
Clinical features include pathological fractures as well as cytopenia(s) caused by hypersplenism and marrow infiltration.

The diagnosis is generally made by
cytomorphologic examination of the bone marrow and confirmed by measurement of glucocerebrosidase activity in peripheral blood leucocytes or cultured skin fibroblasts.
Gaucher's disease is a rare disease. There is a lack of familiarity about Gaucher
disease type 1 which can manifest in adulthood. In this case, the absence of
hepatosplenomegaly and the family history made it less likely that Gaucher
disease be considered. However, the histiocytes had hallmarks of Gaucher cells
and were positive for PAS staining. These cells were also diffusely positive for
Prussian blue stain, in contrast to mimickers such as carcinoma cells or histiocytes
from normal bone marrow, other lysosomal storage diseases and pseudo‐Gaucher histiocytes associated with chronic myeloproliferative disorders such as chronic myeloid leukaemia.

Histiocytes with diffuse iron uptake should be considered as highly suspicious for
Gaucher's disease, and an appropriate clinical work‐up should be instituted.