Alpha-1 antitrypsin (AAT) levels were lower in patients with primary spontaneous pneumothorax (PSP), and alpha-1 antitrypsin deficiency (AATD) is an effective factor in the development of PSP, a study published in the Journal of the College of Physicians and Surgeons Pakistan has shown. 

Spontaneous pneumothorax (SP) is a condition in which air accumulates in the pleural space in the absence of trauma. It is considered a primary disease in otherwise healthy patients, and a secondary disease in patients with underlying lung disease, such as COPD and tuberculosis.

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AATD is already known to be a predisposing factor to developing SP. The purpose of this study was to “determine the AATD in patients diagnosed in the Emergency Medicine Clinic and Thoracic Surgery with PSP; and determine the presence of the SERPINA1 gene and, if any, the phenotype (M, Z, S)  in patients with low enzyme values.” 

The authors of this study conducted a prospective collection of data of patients and volunteers between a 12-month period, from October 2019 to October 2020. The sample size was determined according to the G*power program (effect size: 0.6, α: 0.05, power: 0.80, N2/N1:1, total sample size: 72, actual power: 0.80).  A total of 48 patients aged 18-50 years old were included in the study. The control group consisted of 42 healthy volunteers aged 18-45 years old.

Blood samples were taken from both the patients and a control group for serum AAT level analysis. A cut-off value was determined at 110 ng/mL. Thirteen patients and seven volunteers with an AAT value of <110 ng/mL had molecular genetic analysis performed to determine the chromosomal phenotype and allele of the SERPINA1 gene. 

The results show that the AAT cut-off point of 110 ng/mL was found to have a diagnostic accuracy rate of 69% in patients, with a sensitivity value of 0.714 and a specificity value of 0.781. In addition, it was discovered that the effect of the SERPINA1 gene on PSP formation was benign.

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This study demonstrates that AATD may contribute to the development of PSP. The authors of this study “recommend close follow-up of patients with AATD to prevent or at least reduce the development of possible complications, including COPD, emphysema, and recurrence SP.”


Sahin T, Ozsoy IE, Tezcan MA, Kocer D, Erdogan M. Association of alpha 1-antitrypsin deficiency and genetic predisposition in primary spontaneous pneumothorax. J Coll Physicians Surg Pak 2021; 31(07):775-779.