Conditions associated with Alpha-1 Antitrypsin Deficiency, occurring due to paucity of AAT in circulation allowing uninhibited inflammation in lungs, and accumulation of mutated AAT in the liver | By User: Nucleicmilkshake and User:Mikael Häggström – http://commons.wikimedia.org/wiki/File:Female_shadow_with_organs.png, CC0, https://commons.wikimedia.org/w/index.php?curid=20029030
Diagnosis
Investigations
Pulmonary function test
BLOOD:
α1AT levels
Liver function test (LFT)
Imaging
Chest X-ray
CT scan
Emphysema due to alpha-1-antitrypsin deficiency. | By James Heilman, MD – Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=14633672
Computed tomography of the lung showing emphysema and bullae in the lower lung lobes of a subject with type ZZ alpha-1-antitrypsin deficiency. There is also increased lung density in areas with compression of lung tissue by the bullae. | By Laura Fregonese and Jan Stolk – Hereditary alpha-1-antitrypsin deficiency and its clinical consequences. Orphanet Journal of Rare Diseases 2008, 3:16. doi:10.1186/1750-1172-3-16., CC BY 2.0, https://commons.wikimedia.org/w/index.php?curid=5545624
Histopathology (Biopsy)
Liver biopsy:
Periodic acid & shift positive (PAS+)
Diastase resistant
Photomicrograph of a liver biopsy from a patient with alpha-1 antitrypsin deficiency. The PAS with diastase stain shows the diastase-resistant pink globules that are characteristic of this disease. | By Jerad M Gardner, MD – Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=15124956
