Volume : 12, Issue : 06, June – 2025
Title:
A STUDY ON ALPHA-1 ANTITRYPSIN DEFICIENCY: CAUSES, SYMPTOMS AND TREATMENT
Authors :
Senthilraja M., Monika K., Priyadharshini K., Suga Priya R., Preetha S., Kumutha K.,
Abstract :
Alpha-1 Antitrypsin Deficiency (AATD) is a genetic disorder characterized by low levels or dysfunctional production of alpha-1 antitrypsin (AAT), a protease inhibitor primarily synthesized in the liver. AAT plays a critical role in protecting lung tissue from neutrophil elastase–mediated degradation. Deficiency of AAT predisposes individuals to early-onset pulmonary emphysema, particularly in the lower lobes, and may also lead to liver diseases such as cirrhosis and hepatocellular carcinoma due to the accumulation of misfolded AAT in hepatocytes. AATD follows an autosomal codominant inheritance pattern, with the most common pathogenic variants being the Z and S alleles of the SERPINA1 gene. Diagnosis involves serum AAT level measurement, phenotyping, and genotyping. Management includes lifestyle modifications, augmentation therapy, pulmonary rehabilitation, and in severe cases, lung or liver transplantation. Early recognition of AATD is essential for optimal management and slowing disease progression.
Key words: A1AD, Alpha-1 Antitrypsin Disorder, Serpin A1 Deficiency, Inherited Emphysema, Genetic COPD.
Cite This Article:
Please cite this article in press Monika.K et al ., A Study On Alpha-1 Antitrypsin Deficiency: Causes, Symptoms And Treatment.., Indo Am. J. P. Sci, 2025; 12(07).
Number of Downloads : 10
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