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Alpha-1 Antitrypsin PI M Heterozygotes with Rare Variants: Do They Need a Clinical and Functional Follow-Up?
Anna Annunziata1, Giuseppe Fiorentino1, Marco Balestrino2
1Department of Intensive Care, Azienda Ospedaliera di Rilievo Nazionale dei Colli, 80131 Naples, Italy.
Journal of Clinical Medicine
|February 24, 2024
Summary
Individuals with alpha-1 antitrypsin deficiency (PI*MR) experience accelerated lung function decline, especially smokers with COPD. Monitoring respiratory health is crucial for this group.
Area of Science:
- Pulmonary Medicine
- Genetics
- Respiratory Health
Background:
- Limited data exists on airway dysfunction in alpha-1 antitrypsin deficiency (PI*MR) heterozygotes with rare SERPINA-1 gene variants.
- Understanding the respiratory risks associated with PI*MR is critical for early intervention.
Purpose of the Study:
- To evaluate respiratory functional parameters in PI*MR heterozygotes.
- To compare the respiratory decline in PI*MR heterozygotes with PI*MZ and PI*MS genotypes.
Main Methods:
- Observational study of PI*MR heterozygotes with one-year follow-up.
- Assessment of respiratory parameters including FEV1, FEV1/FVC, and DLCO.
- Comparison with PI*MZ and PI*MS patient groups.
Main Results:
- PI*MR and PI*MZ groups showed significantly higher FEV1 decline than PI*MS.
- PI*MR patients exhibited increased DLCO annual decline compared to PI*MS.
- Smokers and those with COPD within the PI*MR group demonstrated significantly worse respiratory parameter decline.
Conclusions:
- PI*MR heterozygotes, particularly smokers with COPD, experience a greater annual decline in respiratory function.
- Regular monitoring of respiratory parameters is recommended for PI*MR heterozygotes.
- This study highlights the importance of genetic screening for alpha-1 antitrypsin deficiency.
