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Alpha-1 antitrypsin deficiency (view source)
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'''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 [[medical liver disease|liver pathology]]. The lung pathology is ''panlobular emphysema'' and covered in the ''[[emphysema]]'' article. | |||
==General== | |||
Etiology: | |||
*Genetic defect. | |||
**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 }} | |||
</ref> | |||
Causes: | |||
*Lung and liver injury. | |||
**Lung -> panlobular [[emphysema]]. | |||
==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=== | |||
<gallery> | |||
Image:Alpha-1 antitrypsin deficiency.PAS Diastase.jpg | Alpha-1 AT deficiency - PASD. (WC/JMGardner) | |||
</gallery> | |||
www: | |||
*[http://moon.ouhsc.edu/kfung/jty1/opaq/pathquiz/l1k001-pq01.htm Alpha-1 AT (ouhsc.edu)]. | |||
*[http://www.pathpedia.com/Education/eAtlas/Histopathology/Liver_and_bile_ducts/Alpha-1_antitrypsin_deficiency.aspx Alpha-1 AT (pathpedia.com)]. | |||
==Stains== | |||
*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> | |||
*PASD +ve.<ref name=pmid6189389/> | |||
==IHC== | |||
*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> | |||
==See also== | |||
*[[Medical liver disease]]. | |||
==References== | |||
{{Reflist|2}} | |||
[[Category:Diagnosis]] | [[Category:Diagnosis]] | ||
[[Category:Medical liver disease]] | |||
[[Category:Pulmonary pathology]] | |||