Pulmonary Function Decline in Alpha-1 Antitrypsin Deficiency: A Systematic Review and Meta-Analysis

Area of Science:

• Pulmonology
• Genetics
• Internal Medicine

Background:

• Limited data exist on pulmonary function decline in alpha-1 antitrypsin deficiency (AATD)-associated lung and/or liver disease.
• Pulmonary and liver manifestations of AATD significantly impact patient health and quality of life.

Purpose of the Study:

• To conduct a systematic literature review (SLR) and meta-analysis on pulmonary function decline in AATD-associated lung and/or liver disease.
• To identify associated risk factors, clinical outcomes, and health-related quality of life (HRQoL) changes.

Main Methods:

• Systematic literature review (SLR) following PRISMA guidelines, including MEDLINE/Embase and congresses (2003-2023).
• Two independent reviewers assessed study eligibility and quality using JBI tools.
• Meta-analyses were performed on select outcomes, including forced expiratory volume in 1 second (FEV1) and St. George's Respiratory Questionnaire (SGRQ) scores.

Main Results:

• 77 publications were included in the SLR; 32 reported on pulmonary function decline.
• In AATD-associated lung disease, annualized FEV1 decline was -39.1 mL/year and -1.1 %/year, with a slight worsening in SGRQ score (1.3 points/year).
• Data for AATD-associated liver disease (with or without lung disease) were insufficient for meta-analysis of pulmonary function or HRQoL decline.

Conclusions:

• This SLR and meta-analysis provides an estimate of annual pulmonary function decline in AATD-associated lung disease.
• An evidence gap exists regarding pulmonary function decline in AATD-associated liver disease.
• Further research into risk factors and biomarkers is needed to optimize treatment strategies for AATD patients.