Alpha-1 antitrypsin deficiency and risk of lung cancer: A systematic review

Lung Cancer

Transl Oncol. 2020 Oct 31;14(1):100914. doi: 10.1016/j.tranon.2020.100914. Online ahead of print.


INTRODUCTION: Alpha-1 antitrypsin deficiency (AATD) is an inherited genetic disorder associated with a risk of developing lung and liver disease. Several studies have examined its possible association with an increased risk of lung cancer.

MATERIALS AND METHODS: Systematic review of the scientific literature on studies analyzing the risk of LC associated with AATD, as well as its impact on the histological type and survival. The information was located in the Medline (PubMed), Cochrane, and EMBASE databases.

RESULTS: Six studies including a total of 4 038 patients with LC met the inclusion criteria. Most studies included seem to indicate that AATD increases the risk of developing LC, particularly of the squamous and adenocarcinoma types. This risk increases with exposure to tobacco smoke and the diagnosis of chronic obstructive pulmonary disease (COPD). Only one study analyzed the survival of LC patients without finding differences between AATD and non-AATD patients.

CONCLUSIONS: These results suggest that AATD may increase the risk of developing LC, particularly of the squamous and adenocarcinoma histological types, but no impact on patient survival has been demonstrated. However, the low quality of the included studies makes it necessary to carry out more studies with a larger sample size and preferably of a prospective nature to confirm these results.