PT  - JOURNAL ARTICLE
AU  - Bruno Balbi
TI  - GPs Meet Rare Lung Disorders Task Force factsheet: α-1 antitrypsin deficiency
AID  - 10.1183/20734735.000414
DP  - 2014 Mar 01
TA  - Breathe
PG  - 87--89
VI  - 10
IP  - 1
4099  - http://breathe.ersjournals.com/content/10/1/87.short
4100  - http://breathe.ersjournals.com/content/10/1/87.full
SO  - Breathe2014 Mar 01; 10
AB  - Definition α-1 antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, or as vasculitis and is characterised by low serum levels of AAT, the main protease inhibitor in human serum. Key messages Think about AATD if your patient had emphysema at younger age. Assess the levels of blood AAT to ascertain the diagnosis by the finding of reduced levels. Refer the patient to a Department with experience in lung/liver manifestations of AATD. Follow the patient longitudinally in collaboration with the reference center. Issues to consider are replacement therapy (if needed or available) and clinical evolution toward respiratory or liver failure.