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Publications

Journal Article Ppublish

PubMed: 39624947 DOI: 10.1080/25310429.2024.2429911

Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes.

Pulmonology 31(1):2429911

Authors: Ilaria Ferrarotti, Davide Piloni, Asia Filosa, Stefania Ottaviani, Valentina Barzon, Alice Maria Balderacchi, Luciano Corda, Christine Seebacher, Sara Magni, Francesca Mariani, Paolo Baderna, Paola Confalonieri, Leonardo Iannacci, Silvia Mancinelli, Paola Putignano, Carlo Albera, Giulia Maria Stella, Maria Cristina Monti, Angelo Guido Corsico

Affiliations

  • Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, San Matteo, Pavia, Italy.
  • Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Pavia, Italy.
  • Member of ERN-LUNG.
  • Department of Public Health, Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy.
  • Spedali Civili di Brescia, Prima Divisione Medicina, Brescia, Italy.
  • Pneumologia, Azienda Sanitaria di Bolzano, Bolzano, Italy.
  • Ospedale Civile di Saluzzo, Fisiopatologia Respiratoria, Saluzzo, Italy.
  • Member of ERN-LUNG. Department of Pulmonology, University Hospital of Cattinara, Trieste, Italy.
  • Sondalo Hospital, ASST Valtellina e Alto Lario, Sondrio, Italy.
  • Department of Medical Sciences, Pulmonology Unit, University of Torino, Torino, Italy.

Abstract

Alpha-1 Antitrypsin Deficiency (AATD) is a co-dominant condition associated with an increased risk of lung and liver disease. Since it is commonly thought that 95% of severe cases of AATD have PI*ZZ genotype, most studies about AATD have been focused on the Z variant. Nevertheless, over 500 single nucleotide variations in the gene have been identified. We investigated the clinical presentation of subjects with severe AAT deficiency due to rare genotypes of the gene. We enrolled patients from the Italian Registry for AATD (RIDA1) with the following inclusion criteria: diagnosis of severe AATD; age >18 years; full clinical data available at diagnosis; three years of follow-up respiratory function data. A total of 281 patients were enrolled from the RIDA1 Registry and subdivided into 3 cohorts: PI*ZZ genotype (n = 160), PI*SZ genotype (n = 54), and rare genotypes PI*R (n = 67). We did not observe any statistical differences among the cohorts regarding sex, smoking habits, occupational exposure and age at diagnosis. Patients with severe AATD due to rare genotypes have clinical characteristics and respiratory profiles similar to PI*ZZ subjects, and differed from the PI*SZ patient group. Early and accurate diagnosis of PI*R subjects is therefore important for their appropriate clinical management.

MeSH

Genes, Respiratory Tract Diseases, Alpha 1-Antitrypsin Deficiency, Genotype, Diagnosis, Alpha 1-Antitrypsin, Smoking

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