ArticleERJ open research2022
Demographic and clinical characteristics of patients with α
Article in ERJ open research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 19 citations in OpenAlex.
- Bronchiectasis in severe αERJ open research · 2026Article
- Alpha-1 Antitrypsin Deficiency and Bronchial Asthma: Current Challenges.Biomolecules · 2025Review
- Characterization of the Mmalton carrier's cohort within the EARCO (European Alpha- 1 Antitrypsin Research Collaboration) registry.BMC pulmonary medicine · 2025Article
- Can Quality of Life Tests Be Useful in Patients Affected by Alpha-1 Antitrypsin Deficiency?Journal of clinical medicine · 2024Article
- Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project.Respiratory research · 2024Article
- Nine controversial questions about augmentation therapy for alpha-1 antitrypsin deficiency: a viewpoint.European respiratory review : an official journal of the European Respiratory Society · 2023Article
- Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests.Diagnostics (Basel, Switzerland) · 2023Review
- Recommendations for the Implementation of the Self-Administration of Alpha-1 Antitrypsin.International journal of chronic obstructive pulmonary disease · 2023Article
- Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry.Respiratory research · 2022Observational
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Authors and funding
12 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: The Spanish registry of α Method: Individuals with severe AATD defined as proteinase inhibitor (PI) genotypes PI*ZZ, PI*SZ and other rare deficient variants were included from February 1, 2020, to February 1, 2022. The analysis focused on a comparison of the characteristics of PI*ZZ and PI*SZ patients. Results: 409 patients were included (53.8% men) with a mean±sd age of 53.5±15.9 years. Genotypes were PI*ZZ in 181 (44.7%), PI*SZ in 163 (40.2%), PI*SS in 29 (7.2%) and other in 32 (7.9%). 271 (67.4%) had lung disease: 175 chronic obstructive pulmonary disease (43.5%), 163 emphysema (40.5%) and 83 bronchiectasis (20.6%). Patients with the PI*SZ genotype were younger, more frequently non-index cases and had a lower frequency of respiratory diseases except asthma compared with PI*ZZ patients. Among patients with respiratory diseases, PI*SZ individuals were significantly older both at onset of symptoms and at diagnosis; only asthma was more frequent in PI*SZ than in PI*ZZ individuals. Twelve PI*SZ patients (15.4%) received augmentation therapy compared with 94 PI*ZZ patients (66.2%; p<0.001). Conclusions: There is a high prevalence of PI*SZ in Spain. Patients with the PI*SZ genotype were older at symptom onset and diagnosis and had less severe lung disease compared with PI*ZZ patients. The prevalence of asthma was higher in PI*SZ, and up to 15% of PI*SZ patients received augmentation therapy.
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Registered trials
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