The Allergist's Role in Detection of Severe Alpha-1 Antitrypsin Deficiency
Monday, March 7, 2016
South Exhibit Hall H (Convention Center)
Theodore E. Kelbel, MD, Darren Morris, Deirdre Walker, Timothy J. Craig, DO, FAAAAI

Alpha-1 antitrypsin deficiency (AATD) frequently presents as difficult to manage asthma and is well documented as being underdiagnosed in the population.  We hypothesize allergists/immunologists currently contribute to the under diagnosis of appropriate asthma patients by lack of screening.


We created a patient survey using REDCap submitted through the Alpha-1 Foundation Research Registry to query AATD participants with severely deficient phenotypes (ZZ, SZ, Znull, FZ) about patient diagnosis and treatment patterns.


A registry population of 500 individuals was invited to achieve an enrollement of 227 participants (45% response rate).  Seventy-eight (34%) had seen an allergist, but only 11 (5%) were diagnosed by their allergist.  Likewise, only 5 of the 59 patients (8%) on alpha 1 augmentation therapy had it prescribed by their allergist.  Nearly 46% of all patients (104) were diagnosed with either Asthma (28%) or Allergic Disease (18%) prior to their AATD diagnosis.  Eighteen patients were treated with immunotherapy prior to their diagnosis with 94% of these being treated for 3 years or longer prior to diagnosis.


Our data supports our hypothesis that allergists/immunologists should consider and screen for AATD in asthma patients in whom spirometry does not return to normal.  We propose allergists/immunologists are well suited to screen and treat patients with AATD.