SynthesisEuropean respiratory review : an official journal of the European Respiratory Society2022
Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews.
Synthesis in European respiratory review : an official journal of the European Respiratory Society, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 38 citations in OpenAlex.
- Precision nanomedicine for pulmonary diseases: from molecular targeting to clinical translation.Signal transduction and targeted therapy · 2026Review
- Precision nanomedicine for pulmonary diseases: from molecular targeting to clinical translation.Signal transduction and targeted therapy · 2026Review
- Alpha-1 Antitrypsin Deficiency-Associated Chronic Obstructive Pulmonary Disease.Medicina (Kaunas, Lithuania) · 2026Review
- Behavioural changes in exposure patterns after genetic counselling among asymptomatic first-degree relatives of patients with pulmonary fibrosis and carriers of a telomere-related gene variant.ERJ open research · 2026Article
- Optimising pulmonary rehabilitation for αERJ open research · 2026Article
- Bronchiectasis in severe αERJ open research · 2026Article
- Characteristics of bronchiectasis in patients with different genotypes of severe αERJ open research · 2026Article
- Protein Fragments: From Biomarkers to Therapeutic Targets-A Focus on α1-Antitrypsin-Derived Peptides.Mediators of inflammation · 2026Review
- The cellular triangle in bronchiectasis: the interplay network and regulatory mechanisms of neutrophils, macrophages, and epithelial cells.European journal of medical research · 2025Review
- Pi*M Palermo Mutation in Bronchiectasis due to Alpha-1 Antitrypsin Deficiency: A Rare Genetic Cause.Medeniyet medical journal · 2025Article
- A cure for alpha-1? Novel therapeutics in alpha-1 antitrypsin deficiency.The European respiratory journal · 2025Article
- Patient experience of alpha-1 antitrypsin deficiency-associated liver disease: a qualitative study.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2025Article
- Characterization of the Mmalton carrier's cohort within the EARCO (European Alpha- 1 Antitrypsin Research Collaboration) registry.BMC pulmonary medicine · 2025Article
- Patient-centered assessment of treatment for alpha-1 antitrypsin deficiency: literature review to identify concepts and measures for people with alpha1-antitrypsin deficiency.Orphanet journal of rare diseases · 2025Review
- Improving the Likelihood of Identifying Alpha-1 Antitrypsin Deficiency Among Patients With COPD: A Novel Predictive Model Using Real-World Data.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2025Article
- Spatial covariance reveals isothiocyanate natural products adjust redox stress to restore function in alpha-1-antitrypsin deficiency.Cell reports. Medicine · 2025Article
- Alpha-1 Antitrypsin Deficiency-Associated panniculitis: A survey of lived experience.PloS one · 2025Article
- The Epidemiology of Alpha-1 Antitrypsin Deficiency in Norway.Clinical epidemiology · 2025Article
- Article
- Characterization of alpha-1 antitrypsin in a Pi∗ZZ patient with emphysema: a case report.Respiratory medicine case reports · 2025Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder characterised by reduced levels of circulating alpha-1 antitrypsin and an increased risk of lung and liver disease. Recent reviews of AATD have focused on diagnosis, epidemiology and clinical management; comprehensive reviews examining disease burden are lacking. Therefore, we conducted literature reviews to investigate the AATD disease burden for patients, caregivers and healthcare systems. Embase, PubMed and Cochrane libraries were searched for AATD publications from database inception to June 2021, in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Most published AATD studies were small and short in duration, with variations in populations, designs, measures and outcomes, complicating cross-study comparisons. AATD was associated with significant pulmonary and hepatic morbidity. COPD, emphysema and bronchiectasis were common lung morbidities, where smoking was a key risk factor. Fibrosis and steatosis were the most common liver complications reported in patients with a
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.