Introduction:

Deficit of alpha 1 antitrypsin is a known cause of pulmonary emphysema (PE) in patients with severe deficiency. There is currently no information on the prevalence of mutations in this gene in patients with PE but without severe deficiency (<60mg/dl).

Material and methods:

Prospective case-control study (2:1) conducted between July 2018 and January 2023. During this period, 176 cases with PE confirmed by chest CT and 87 controls without PE were analyzed. All patients underwent a genetic analysis using Progenika Biopharma S.A, which includes the 14 most frequent mutations of the serpin1 gene.

Results:

The prevalence of mutations was statistically significantly higher in patients with PE than in the control group; cases 27.3% (48/176) and controls 17.2% (15/87) (p=0.036). Figure 1 shows the most frequent mutations in each group. The mean serum value of alpha 1 antitrypsin in patients with PE was 105.7 (31.9) mg/dl. 56% (27/48) of the patients with PE and mutations presented deficit with values between 60 and 110 mg/dl. In patients with PE and mutations  60.9% had airflow obstruction (FEV1/FVC<0.70) compared to 65.6% those without mutation (p 0.29).

Conclusions:

In a general population of patients with PE, without severe alpha 1 antitrypsin deficiency, a higher prevalence of Serpina1 gene mutations was observed compared to patients without PE. 

Funded by Grifols Laboratories.