Alpha1-antitrypsin deficiency and asthma

a1-antitrypsin deficiency (AATD) is a genetically inherited autosomal-codominant disease with a variable clinical spectrum of lung-related diseases. Pulmonary involvement of a1-antitrypsin deficiency may also include emphysema with variable functional and radiological abnormalities, asthma, and bronchiectasis. Asthma and AATD are mutually exclusive disease entities, but the commonality of neutrophil inflammation across the diseases might suggest common underlying mechanisms of effect. The diseases share many clinical and functional features: patients with AATD commonly first present with asthma-like symptoms; functional alterations may be common to both, such as bronchial hyperresponsiveness or fixed obstruction after bronchial remodeling. It has been recognized that allergy and asthma often coexist with AATD, but the relationship between allergy, asthma and AATD is not clear. Distinguishing AATD from asthma based on presentation and clinical evaluation is not possible. The clinician must assess each of the elements in the context of the whole patient, any patient with difficult-to-manage asthma should be screened for AATD. From the clinician's point of view, improving diagnosis in this population is fundamental to optimize clinical management. Genetic studies will probably be needed in the future to unequivocally establish the causal link between AATD and asthma.