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Lecture 34. Gaucher Disease
Mary Kate Lopiccolo MD
Presentation Date:
June 18, 2026
> Gaucher Disease is an autosomal recessive condition, resulting from biallelic variants in the GBA1 gene.
> Deficiency of glucocerebrosidase (acid β-glucosidase) leads to accumulation of glucosylceramide in reticuloendothelial macrophages — particularly in the bone marrow, spleen, and liver.
> Gaucher Disease is more common among Ashkenazi Jews, and may present clinically with splenomegaly, thrombocytopenia
Mary Kate LoPiccolo, MD
Division of Medical Genetics and Genomics
Department of Genetics and Genomic Sciences
Icahn School of Medicine at Mount Sinai
mary.lopiccolo@mssm.edu
> This is a classic Gaucher Cell seen in hte boone marrow of an affected individual.
> An enlarged, lipid-laden macrophage.
> Cytoplasm has a characteristic fibrillary, striated, “wrinkled” or “crumpled tissue-paper” appearance—caused by tightly packed lysosomal lipid aggregates
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