Genetic risk factor for COPD is: (A) a1 Antitrypsin Deficiency, (B) Cystic fibrosis, (C) Marfan syndrome, (D) Severe combined immunodeficiency
Answer is A. Severe a1 Antitrypsin deficiency is a proven genetic risk factor for COPDAlthough only approximately 1% of COPD patients are found to have severe a1AT deficiency as a contributing cause of COPD, these patients demonstrate that genetic factors can have a profound influence on the susceptibility for developing COPDSpecific treatment in the form of a1AT augmentation therapy is available for severe a1AT deficiency as a weekly IV infusion Patients with cystic fibrosis develop bronchiectasisRef: Harrison 19e pg: 1704