Alpha-1 Antitrypsin Deficiency and Bronchial Asthma: Current Challenges.

Area of Science:

• Pulmonology
• Genetics
• Immunology

Background:

• Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder typically linked to emphysema and liver disease.
• The relationship between AATD and bronchial asthma is poorly understood and debated.
• Existing research presents conflicting data on AATD prevalence in asthma patients and vice versa.

Purpose of the Study:

• To review current evidence on the epidemiological, clinical, and pathophysiological links between AATD and asthma.
• To assess the potential causal role of AATD in asthma development and its impact on disease severity.
• To evaluate the efficacy of augmentation therapy in asthma patients with AATD mutations.

Main Methods:

• Narrative review of existing literature.
• Analysis of prevalence data from epidemiological studies.
• Assessment of clinical and pathophysiological evidence.

Main Results:

• Prevalence of AATD alleles in asthma patients varies widely (2.9%–25.4%).
• Asthma prevalence in AATD patients also shows significant variability (1.4%–44.6%).
• Insufficient evidence exists to establish a causal link between AATD and asthma, or its effect on severity/prognosis. Augmentation therapy benefits are unproven.

Conclusions:

• Current evidence does not support a direct causal role for AATD in asthma.
• Screening for AATD in specific asthma populations (severe/atypical phenotypes) may be considered.
• Future research should focus on prospective studies investigating AATD interactions with asthma endotypes, like T2-low asthma.