The Allergist's Role in Detection of Severe Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (AATD) frequently presents as difficult to manage asthma or asthma with fixed obstruction and is well documented as being underdiagnosed in the population.

This study aimed to better describe allergists'/immunologists' involvement in the care of patients with AATD and whether they currently contribute to the underdiagnosis by lack of screening for the condition.

Using the Research Electronic Data Capture tool, we submitted a questionnaire to 500 patients with severe AATD (ZZ, SZ, ZNull, and FZ) through the Alpha-1 Foundation Research Registry to collect information about patient diagnosis and treatment patterns. Approximately 45% completed the questionnaire, leading to a final enrollment of 226 participants.

Seventy-eight participants (34%) had seen an allergist, but only 11 (5%) were diagnosed with AATD by their allergist. Likewise, allergists prescribed alpha-1 augmentation therapy to only 5 (8%) of the 59 patients on augmentation therapy. Nearly 46% (n = 104) of all participants were diagnosed with either asthma (28%) or allergic disease (18%) before receiving a diagnosis of AATD. Eighteen patients had been treated with immunotherapy before their diagnosis of AATD, with 94% of these participants receiving treatment for 3 years or longer.

Our data suggest that specialists in Allergy and Immunology should consider and screen for AATD in patients with asthma in whom spirometry does not return to normal. Furthermore, we propose allergists/immunologists are well suited to screen and treat patients with AATD.