Gaucher cells… I won’t lie. I’d never
heard of them. There are those that would blag, but I’m seeing this as a result.
CPD in action. After forty-odd years in this game I’ve learned something. Which
is why I’m so keen on CPD.
While primarily found in the bone
marrow, Gaucher cells can also be observed in the peripheral blood,
particularly in individuals with Gaucher disease. These cells are macrophages
that have accumulated glucocerebroside, a fatty substance, due to a deficiency
of the enzyme acid-β-glucosidase.
They are Gaucher cells in blood smears
are typically large, with a small, eccentric nucleus and abundant cytoplasm
that may appear fibrillar or "onionskin".
While bone marrow aspirates are often
used for diagnosis, the presence of Gaucher cells in peripheral blood, along
with clinical symptoms and enzyme assays, can aid in diagnosis.
It's important to note that Gaucher-like
or "pseudo-Gaucher" cells can also be seen in other
conditions, such as thalassemia, leukemias, and lymphomas, making accurate
diagnosis crucial.
Measuring acid-β-glucosidase activity (beta-glucosidase
leukocyte test) is a key diagnostic tool, as reduced or absent enzyme
activity is characteristic of Gaucher disease.
In short, Gaucher cells in peripheral blood can
be indicative of Gaucher disease, but their presence should be evaluated in
conjunction with clinical presentation, bone marrow findings, and enzyme assays
to distinguish them from pseudo-Gaucher cells seen in other conditions.
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