Gaucher disease, myelodysplastic syndrome and ICUS

Rosa Ruchlemer*, Moshe Mittelman, Ari Zimran

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Gaucher disease is an inherited lysosomal storage disease commonly associated with hepatosplenomegaly and cytopenias. Progressive cytopenias may be interpreted as an indication of advanced disease and suggest the need to start Gaucher disease specific treatment. As bone marrow evaluation is not routinely performed in Gaucher disease, other causes of cytopenias such as myelodysplastic syndrome a stem cell disorder may be missed. Six patients are described who suffered simultaneously from Gaucher disease and myelodysplastic syndrome, with a discussion of the diagnostic challenges.

Original languageEnglish
Article number102373
JournalBlood Cells, Molecules, and Diseases
StatePublished - Feb 2020
Externally publishedYes


  • Gaucher disease
  • ICUS
  • Myelodysplastic syndrome


Dive into the research topics of 'Gaucher disease, myelodysplastic syndrome and ICUS'. Together they form a unique fingerprint.

Cite this