Difference between revisions of "Alpha-1 antitrypsin deficiency"

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#redirect [[Medical_liver_disease#Alpha-1_antitrypsin_deficiency]]
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'''Alpha-1 antitrypsin deficiency''', abbreviated '''A1-AT''', is a relatively common genetic condition that causes lung and liver pathology.
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It is also known as '''alpha1-antiprotease inhibitor deficiency'''.
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This article deals with the [[medical liver disease|liver pathology]]. The lung pathology is ''panlobular emphysema'' and covered in the ''[[emphysema]]'' article.
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==General==
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Etiology:
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*Genetic defect.
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**Prevalence 1 in 2000-5000.<ref name=pmid21960536>{{Cite journal  | last1 = Stoller | first1 = JK. | last2 = Aboussouan | first2 = LS. | title = A Review of Alpha-1 Antitrypsin Deficiency. | journal = Am J Respir Crit Care Med | volume =  | issue =  | pages =  | month = Sep | year = 2011 | doi = 10.1164/rccm.201108-1428CI | PMID = 21960536 }}
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</ref>
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Causes:
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*Lung and liver injury.
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**Lung -> panlobular [[emphysema]].
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==Microscopic==
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Features:
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*Pink globules in zone 1 (periportal).
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**Globules ''not'' seen in children.
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**May ''not'' be present in late stage (cirrhotic).
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**Best seen on [[PASD stain]].
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**Can be seen on H&E -- if one looks carefully.
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Note:
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*The pink globules may be seen in the context of cirrhosis; cases should be confirmation with IHC.
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===Images===
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<gallery>
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Image:Alpha-1 antitrypsin deficiency.PAS Diastase.jpg | Alpha-1 AT deficiency - PASD. (WC/JMGardner)
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</gallery>
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www:
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*[http://moon.ouhsc.edu/kfung/jty1/opaq/pathquiz/l1k001-pq01.htm Alpha-1 AT (ouhsc.edu)].
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*[http://www.pathpedia.com/Education/eAtlas/Histopathology/Liver_and_bile_ducts/Alpha-1_antitrypsin_deficiency.aspx Alpha-1 AT (pathpedia.com)].
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==Stains==
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*PAS +ve.<ref name=pmid6189389>{{Cite journal  | last1 = Qizilbash | first1 = A. | last2 = Young-Pong | first2 = O. | title = Alpha 1 antitrypsin liver disease differential diagnosis of PAS-positive, diastase-resistant globules in liver cells. | journal = Am J Clin Pathol | volume = 79 | issue = 6 | pages = 697-702 | month = Jun | year = 1983 | doi =  | PMID = 6189389 }}</ref>
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*PASD +ve.<ref name=pmid6189389/>
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==IHC==
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*A1-AT +ve globules.<Ref name=pmid3512609>{{Cite journal  | last1 = Theaker | first1 = JM. | last2 = Fleming | first2 = KA. | title = Alpha-1-antitrypsin and the liver: a routine immunohistological screen. | journal = J Clin Pathol | volume = 39 | issue = 1 | pages = 58-62 | month = Jan | year = 1986 | doi =  | PMID = 3512609 }}</ref>
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==See also==
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*[[Medical liver disease]].
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==References==
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{{Reflist|2}}
  
 
[[Category:Diagnosis]]
 
[[Category:Diagnosis]]
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[[Category:Medical liver disease]]
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[[Category:Pulmonary pathology]]

Revision as of 22:36, 25 October 2014

Alpha-1 antitrypsin deficiency, abbreviated A1-AT, is a relatively common genetic condition that causes lung and liver pathology.

It is also known as alpha1-antiprotease inhibitor deficiency.

This article deals with the liver pathology. The lung pathology is panlobular emphysema and covered in the emphysema article.

General

Etiology:

  • Genetic defect.
    • Prevalence 1 in 2000-5000.[1]

Causes:

  • Lung and liver injury.

Microscopic

Features:

  • Pink globules in zone 1 (periportal).
    • Globules not seen in children.
    • May not be present in late stage (cirrhotic).
    • Best seen on PASD stain.
    • Can be seen on H&E -- if one looks carefully.

Note:

  • The pink globules may be seen in the context of cirrhosis; cases should be confirmation with IHC.

Images

www:

Stains

IHC

  • A1-AT +ve globules.[3]

See also

References

  1. Stoller, JK.; Aboussouan, LS. (Sep 2011). "A Review of Alpha-1 Antitrypsin Deficiency.". Am J Respir Crit Care Med. doi:10.1164/rccm.201108-1428CI. PMID 21960536.
  2. 2.0 2.1 Qizilbash, A.; Young-Pong, O. (Jun 1983). "Alpha 1 antitrypsin liver disease differential diagnosis of PAS-positive, diastase-resistant globules in liver cells.". Am J Clin Pathol 79 (6): 697-702. PMID 6189389.
  3. Theaker, JM.; Fleming, KA. (Jan 1986). "Alpha-1-antitrypsin and the liver: a routine immunohistological screen.". J Clin Pathol 39 (1): 58-62. PMID 3512609.