Inborn Metabolic Diseases, 4th Ed, 2006

There can be several abnormalities there. The blood cells can be very sensitive to the accumulation of substrate, especially in Gaucher Disease, because you have the enlarged spleen and because you have accumulation of the substrate in the blood cells - you can have bleeding, because your platelet counts are low, because there is hypersplenism, so all the platelets are sequestered by the spleen. The patient can have pancytopenia because their bone marrow is infiltrated and it’s not producing enough cell lineage to provide enough red blood cells, white blood cells and platelet. They may have hemophagocytosis because the cells are abnormal, they are being cleared out of the body. One of the hallmarks of lysosomal storage diseases include these vacuolated lymphocytes, and these are pretty much accumulation of those substrates within the cells. They can either be within the lysosome or spilling out of the lysosome. These are very easy to see on a blood smear or by electron microscopy, and this is a very easy test to do in any hospital, even a small community hospital because you just need a blood drop taken to the hematologist and they can look under a light microscope and they can see these vacuoles. Therefore if a pediatrician has a child in whom they suspect a lysosomal storage disease, an easy test to do would be to get a blood smear and see if those vacuoles exist and if they do that brings the suspicion for an LSD really high.


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