RT Journal Article
SR Electronic
T1 GPs Meet Rare Lung Disorders Task Force factsheet: α-1 antitrypsin deficiency
JF Breathe
JO Breathe
FD European Respiratory Society
SP 87
OP 89
DO 10.1183/20734735.000414
VO 10
IS 1
A1 Bruno Balbi
YR 2014
UL http://breathe.ersjournals.com/content/10/1/87.abstract
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.