Can Proteomics Play a Significant Role in the Identification of Biomarkers for Alpha1-Antitrypsin Deficiency?

Alpha-1 antitrypsin deficiency (AATD) is a common genetic disorder that can
manifest in a broad spectrum of clinical symptoms, ranging from asymptomatic cases
to severe, progressive systemic diseases, primarily affecting the lungs and liver. Despite
its prevalence, AATD is often perceived as a rare condition, which can lead to a lack of
awareness among primary care physicians and even some respiratory specialists. This
misconception may result in missed opportunities for diagnosis, particularly in mild or
asymptomatic patients. Consequently, it is vital for healthcare providers to familiarize
themselves with the various presentations, diagnostic techniques, and management strategies
for AATD. This review explores the current understanding of AATD, emphasizing
the valuable role of liquid chromatography-mass spectrometry in identifying biomarkers
that could enhance early diagnosis and help predict disease outcomes. As knowledge
about the complexities of AATD continues to grow, physicians may begin to view the
disorder not as a fatal pathology, but as a treatable inherited condition with the potential for improved management.