Abstract
Background: alpha1-antitripsin (AAT) deficiency is a genetic disorder that contributes to lung tissue degradation. AAT augmentation is an effective therapy for homozygous patients, but its cost-effectiveness has not been assessed for patients with AAT heterozygosity.
Aims: the objective of the study was to assess the decline in forced expiratory volume in one second (FEV1) and clinical outcomes in patients with AAT heterozygosis.
Methods: a retrospective study was conducted at the Respiratory Disease Unit of Luigi Sacco University Hospital, Milan, Italy. As part of the standard operating procedures, from May 2017 to October 2019 inpatients with emphysema, chronic obstructive pulmonary disease (COPD) and bronchiectasis underwent AAT genetic and serum testing and serum C reactive protein dosage. Clinical and lung function parameters were collected up to five years before study enrolment.
Results: 94 patients were enrolled (58% males), 15 were heterozygotic for the AAT gene deficiency: 10 (67%) MS, 1 (7%) MZ, 1 MI, 1 Mwurzburg, 2 mutations in M gene at complete genetic sequencing. 4 patients had >5 exacerbation in 5 years and were all MS. 7/10 patients had 2 or more lung function tests available for the follow up period: 2 patients were defined as fast decliners (> 100 ml loss in FEV1/year), and both had more than 5 exacerbations in 5 years.
Conclusions: despite a minority of patients presented a rapid decline in lung function, the functional and clinical follow up of patients heterozygous for the AAT deficiency gene may be useful to identify the “fast decliner” phenotype in order to personalize the timing of the augmentation therapy and to contrast the rate of lung function decline.
Footnotes
Cite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 2718.
This abstract was presented at the 2020 ERS International Congress, in session “Respiratory viruses in the "pre COVID-19" era”.
This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only).
- Copyright ©the authors 2020