Gaucher disease, myelodysplastic syndrome and ICUS

Rosa Ruchlemer, Moshe Mittelman, Ari Zimran

Research output: Contribution to journalArticlepeer-review

Abstract

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
Volume80
DOIs
StatePublished - Feb 2020
Externally publishedYes

Keywords

  • Gaucher disease
  • ICUS
  • Myelodysplastic syndrome

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