Difference between revisions of "Gaucher disease"

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'''Gaucher disease''' a [[lysosomal storage diseases|lysosomal storage disease]].  It is a rare thingy seen in people that marry their cousins.  
{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Image      = Gaucher_disease_-_very_high_mag.jpg
| Width      =
| Caption    = Gaucher disease. [[H&E stain]].
| Micro      = crumpled tissue paper macrophages
| Subtypes  = type I, type II, type III
| LMDDx      =
| Stains    =
| IHC        =
| EM        =
| Molecular  =
| IF        =
| Gross      =
| Grossing  =
| Site      = [[bone]], other
| Assdx      = [[fracture of bone]]
| Syndromes  =
| Clinicalhx =
| Signs      =
| Symptoms  =
| Prevalence =
| Bloodwork  = pancytopenia
| Rads      =
| Endoscopy  =
| Prognosis  = dependent on subtype
| Other      =
| ClinDDx    =
}}
'''Gaucher disease''' is the most common [[lysosomal storage diseases|lysosomal storage disease]].<ref name=pmid18466035>{{Cite journal | last1 = Chen | first1 = M. | last2 = Wang | first2 = J. | title = Gaucher disease: review of the literature. | journal = Arch Pathol Lab Med | volume = 132 | issue = 5 | pages = 851-3 | month = May | year = 2008 | doi = 10.1043/1543-2165(2008)132[851:GDROTL]2.0.CO;2 | PMID = 18466035 }}</ref> Despite being the most common in its grouping, it is still quite rare.  


==Pathology==
Like most [[storage disorders]], it is inherited autosomal recessive; thus, it is seen more commonly in families where people marry their cousins.
 
==General==
Pathology:
*Accumulation of ''glucocerebroside'' in monocytes/macrophages due to deficiency of ''glucocerebrosidase''.<ref name=emedicine>URL: [http://emedicine.medscape.com/article/944157-overview http://emedicine.medscape.com/article/944157-overview]. Accessed on: 3 December 2010.</ref>
*Accumulation of ''glucocerebroside'' in monocytes/macrophages due to deficiency of ''glucocerebrosidase''.<ref name=emedicine>URL: [http://emedicine.medscape.com/article/944157-overview http://emedicine.medscape.com/article/944157-overview]. Accessed on: 3 December 2010.</ref>
*Defect in ''acid beta-glucosidase'' gene (''GBA gene'').<ref name=omim230800>{{OMIM|230800}}</ref><ref name=omim230900>{{OMIM|230900}}</ref><ref name=omim231000>{{OMIM|231000}}</ref>


===Subtypes===
===Subtypes===
*There are several.
*There are several types - all are autosomal recessive.<ref name=emedicine/>
*All are autosomal recessive.<ref name=emedicine/>


Types:<ref name=Ref_PCPBoD8_95>{{Ref PCPBoD8|95}}</ref>
Types:<ref name=Ref_PCPBoD8_95>{{Ref PCPBoD8|95}}</ref>
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***Abundant macrophages with cytoplasm filled by very small (clear) vacuoles (~0.2-0.4 micrometres).
***Abundant macrophages with cytoplasm filled by very small (clear) vacuoles (~0.2-0.4 micrometres).


Images:
===Images===
*[[WC]]:
<gallery>
**[http://commons.wikimedia.org/w/index.php?title=File:Gaucher_disease_-_very_high_mag.jpg Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC)].
Image:Gaucher disease - intermed mag.jpg | Gaucher disease - intermed. mag. (WC)
**[http://commons.wikimedia.org/wiki/File:Gaucher_disease_-_high_mag.jpg Gaucher disease - high mag. (WC)].
Image:Gaucher_disease_-_high_mag.jpg | Gaucher disease - high mag. (WC)
*www:
Image:Gaucher_disease_-_very_high_mag.jpg | Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC)
**[http://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm Gaucher disease - bone marrow aspirate (swmed.edu)].
</gallery>
**[http://www.webpathology.com/image.asp?case=377&n=3 Gaucher disease (webpathology.com)].<ref name=webpath/>
www:
**[http://www.neuropathologyweb.org/chapter10/images10/10-GCl.jpg Gaucher disease (neuropathologyweb.org)].<ref>URL: [http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html]. Accessed on: 30 November 2010.</ref>
*[http://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm Gaucher disease - bone marrow aspirate (swmed.edu)].
*[http://www.webpathology.com/image.asp?case=377&n=3 Gaucher disease (webpathology.com)].<ref name=webpath/>
*[http://www.neuropathologyweb.org/chapter10/images10/10-GCl.jpg Gaucher disease (neuropathologyweb.org)].<ref>URL: [http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html]. Accessed on: 30 November 2010.</ref>


==Stains==
==Stains==
Line 42: Line 76:
==See also==
==See also==
*[[Fabry disease]].
*[[Fabry disease]].
*[[Storage disorders]].


==References==
==References==

Latest revision as of 12:15, 12 January 2014

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.

General

Pathology:

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

Subtypes

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

Types:[6]

  • 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.

Clinical

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

Microscopic

Features:[7][6]

  • 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]

Notes:

  • Crumpled tissue paper: crumpled tissue paper - image (123rf.com).
  • 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).

Images

  • Gaucher disease - intermed. mag. (WC)

  • Gaucher disease - high mag. (WC)

  • Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC)

www:

Stains

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

See also

References

  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: http://emedicine.medscape.com/article/944157-overview. 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: http://www.webpathology.com/image.asp?case=377&n=3. Accessed on: 30 November 2010.
  8. ↑ URL: http://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm. Accessed on: 28 May 2011.
  9. ↑ URL: http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html. Accessed on: 30 November 2010.
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