Difference between revisions of "Alpha-1 antitrypsin deficiency"

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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 confirmed 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.