Difference between revisions of "Alpha-1 antitrypsin deficiency"

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{{ Infobox diagnosis
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| Name      = {{PAGENAME}}
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| Image      = Alpha-1 antitrypsin deficiency.PAS Diastase.jpg
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| Width      =
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| Caption    = Alpha-1 AT deficiency. [[PASD stain]].
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| Synonyms  = alpha1-antiprotease inhibitor deficiency
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| Micro      = +/-pink globules in zone 1 (periportal), +/-fibrosis or [[cirrhosis]]
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| Subtypes  =
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| LMDDx      =
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| Stains    = PASD +ve (pink globules in zone 1) - not seen in children
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| IHC        = A1-AT +ve globules
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| EM        =
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| Molecular  =
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| IF        =
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| Gross      =
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| Grossing  =
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| Site      = [[liver]] - see ''[[medical liver disease]]'', [[lung]] - see ''[[emphysema]]''
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| Assdx      =
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| Syndromes  =
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| Clinicalhx =
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| Signs      =
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| Symptoms  =
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| Prevalence = uncommon (1 in 2000-5000)
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| Bloodwork  =
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| Rads      = emphysematous changes (chest x-ray)
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| Endoscopy  =
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| Prognosis  =
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| Other      =
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| ClinDDx    =
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| Tx        =
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}}
 
'''Alpha-1 antitrypsin deficiency''', abbreviated '''A1-AT''', is a relatively common genetic condition that causes lung and liver pathology.
 
'''Alpha-1 antitrypsin deficiency''', abbreviated '''A1-AT''', is a relatively common genetic condition that causes lung and liver pathology.
  

Revision as of 22:59, 25 October 2014

Alpha-1 antitrypsin deficiency
Diagnosis in short

Alpha-1 AT deficiency. PASD stain.

Synonyms alpha1-antiprotease inhibitor deficiency

LM +/-pink globules in zone 1 (periportal), +/-fibrosis or cirrhosis
Stains PASD +ve (pink globules in zone 1) - not seen in children
IHC A1-AT +ve globules
Site liver - see medical liver disease, lung - see emphysema

Prevalence uncommon (1 in 2000-5000)
Radiology emphysematous changes (chest x-ray)

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.