Gaucher disease

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Gaucher disease
Diagnosis in short

Gaucher disease. H&E stain.

LM crumpled tissue paper macrophages
Subtypes type I, type II, type III
Site bone, other

Associated Dx fracture of bone
Blood work pancytopenia
Prognosis dependent on subtype

Gaucher disease is the most common lysosomal storage disease.[1] Despite being the most common in its grouping, it is still quite rare.

Like most storage disorders, it is inherited autosomal recessive; thus, it is seen more commonly in families where people marry their cousins.



  • Accumulation of glucocerebroside in monocytes/macrophages due to deficiency of glucocerebrosidase.[2]
  • Defect in acid beta-glucosidase gene (GBA gene).[3][4][5]


  • There are several types - all are autosomal recessive.[2]


  • Type I: 99% of cases; no CNS involvement - survive to adulthood.
  • Type II: infantile onset - CNS degeneration + death at young age.
  • Type III: mixed of type I & type II.


  • Pancytopenia - due to marrow replacement.
  • Hepatosplenomegaly (type I).



  • Mononuclear phagocytes with abundant eosinophilic cytoplasm with subtle irregular lines (~0.5 micrometers in width).
    • Known as "crumpled tissue paper cells" / "crumpled tissue paper cytoplasm."[8]


  • Crumpled tissue paper: crumpled tissue paper - image (
  • The textbook case may look crumpled... along with some mind altering drugs.
    • The typical case is:
      • Abundant macrophages with cytoplasm filled by very small (clear) vacuoles (~0.2-0.4 micrometres).




  • Material in "crumpled tissue paper cells": PAS +ve.[6]

See also


  1. Chen, M.; Wang, J. (May 2008). "Gaucher disease: review of the literature.". Arch Pathol Lab Med 132 (5): 851-3. doi:10.1043/1543-2165(2008)132[851:GDROTL]2.0.CO;2. PMID 18466035.
  2. 2.0 2.1 URL: Accessed on: 3 December 2010.
  3. Online 'Mendelian Inheritance in Man' (OMIM) 230800
  4. Online 'Mendelian Inheritance in Man' (OMIM) 230900
  5. Online 'Mendelian Inheritance in Man' (OMIM) 231000
  6. 6.0 6.1 6.2 Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 95. ISBN 978-1416054542.
  7. 7.0 7.1 URL: Accessed on: 30 November 2010.
  8. URL: Accessed on: 28 May 2011.
  9. URL: Accessed on: 30 November 2010.