Distinguishing alpha1-antitrypsin deficiency from asthma

Objective: To explore the relations that exist between α1-antitrypsin deficiency (AATD) and asthma and to evaluate practices for screening patients with asthma for this genetically determined condition in the context of current guidelines.

Data sources: English-language articles were selected from a PubMed search using combinations of the following search terms: alpha1-antitrypsin, screening, and asthma.

Study selections: Studies to be included in this review were based on the authors' expert opinions.

Results: Asthma and AATD are 2 distinct conditions yet they can coexist. Although AATD has a variable symptomatology and some patients may be asymptomatic, many can present with symptoms that are similar to those of asthma, such as dyspnea, wheezing, cough, and mucus production, which can cause confusion at diagnosis. A simple genetic test exists for AATD, which is a single-gene disorder, and the American Thoracic Society and European Respiratory Society guidelines recommend the screening of patients with asthma who exhibit chronic airflow obstruction. Patients with AATD are seen by internal medicine, family medicine, allergy, and pulmonary clinicians, yet there is a generalized lack of awareness of testing among all specialties. This leads to a delayed diagnosis for patients with AATD, typically by 8.3 years.

Conclusion: A greater awareness of AATD among clinicians who regularly manage patients with asthma symptoms could increase diagnosis rates, thus optimizing interventions and management strategies to improve patient outcomes.