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'''Gaucher disease''' | {{ 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. | |||
== | 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/> | ||
Types:<ref name=Ref_PCPBoD8_95>{{Ref PCPBoD8|95}}</ref> | |||
*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=== | ===Clinical=== | ||
*Pancytopenia - due to marrow replacement. | *Pancytopenia - due to marrow replacement. | ||
*Hepatosplenomegaly. | *Hepatosplenomegaly (type I). | ||
==Microscopic== | ==Microscopic== | ||
Features:<ref name=webpath>URL: [http://www.webpathology.com/image.asp?case=377&n=3 http://www.webpathology.com/image.asp?case=377&n=3]. Accessed on: 30 November 2010.</ref> | Features:<ref name=webpath>URL: [http://www.webpathology.com/image.asp?case=377&n=3 http://www.webpathology.com/image.asp?case=377&n=3]. Accessed on: 30 November 2010.</ref><ref name=Ref_PCPBoD8_95>{{Ref PCPBoD8|95}}</ref> | ||
* | *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."<ref>URL: [http://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm http://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm]. Accessed on: 28 May 2011.</ref> | |||
Notes: | |||
*Crumpled tissue paper: [http://www.123rf.com/photo_3430535_three-pieces-of-purple-tissue-paper-ripped-wrinkled-and-torn-isolated-on-a-white-background.html 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: | ===Images=== | ||
<gallery> | |||
Image:Gaucher disease - intermed mag.jpg | Gaucher disease - intermed. mag. (WC) | |||
Image:Gaucher_disease_-_high_mag.jpg | Gaucher disease - high mag. (WC) | |||
Image:Gaucher_disease_-_very_high_mag.jpg | Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC) | |||
</gallery> | |||
www: | |||
*[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.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> | *[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== | |||
*Material in "crumpled tissue paper cells": PAS +ve.<ref name=Ref_PCPBoD8_95>{{Ref PCPBoD8|95}}</ref> | |||
==See also== | ==See also== | ||
*[[Fabry disease]]. | *[[Fabry disease]]. | ||
*[[Storage disorders]]. | |||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category:Weird stuff]] | [[Category:Weird stuff]] | ||
[[Category:Diagnosis]] | |||