Researchers publishing in the Annals of Allergy, Asthma & Immunology presented 2 case studies illustrating how alpha-1 antitrypsin deficiency (AATD) and asthma can overlap

The first case details a 65-year-old man who demonstrated rapid progressive decline in forced expiratory volume in 1 second in a number of pulmonary function tests. His past medical history included longstanding asthma. 

Further investigations revealed that he had the MZ genotype for AATD. Due to his history of chronic asthma, his physicians hypothesized that his respiratory distress was primarily due to this condition. This hypothesis was further strengthened by the fact that he demonstrated bronchodilator reversibility on pulmonary function tests. 


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The second case as presented a 58-year-old man with a known history of ZZ genotype AATD. His clinical condition was only mildly asymptomatic, but increasing episodes of wheezing prompted him to present to a clinical setting. Pulmonary function tests revealed decreased forced expiratory volume in 1 second. His physicians decided to perform a fractional exhaled nitric oxide test on him, which supported a diagnosis of superimposed asthma. 

Read more about AATD etiology 

These case studies illustrate how symptoms of AATD and asthma can overlap even though they have distinct pathophysiologies. Common symptoms that apply to both conditions include cough, wheezing, and dyspnea. A lack of appropriate clinical suspicion means that patients with AATD and concurrent asthma are rarely tested for AATD and thus remain undiagnosed. 

“Shared symptoms and vague screening guidelines for coincident asthma and AATD can often delay diagnosis in patients with both diseases, potentially worsening patient outcomes,” the authors wrote. 

It is important for physicians to be aware of the importance of exploring a diagnosis of AATD in cases of asthma so that appropriate treatments to be prescribed. 

Reference

Sheth D, VanLancker J, Vyas K. Case study of concurrent alpha-1 antitrypsin deficiency and asthma. Ann Allergy Asthma Immunol. Published online November 1, 2022. doi:10.1016/j.anai.2022.08.846