European Screening For Alpha1-Antitrypsin Deficiency In Subjects With Lung Disease

Greulich, Timm; Metev, Hristo; Budimir, Bernard; Losonczy, György; Borsa, Ludmilla; Vaicius, Dalcius; Solovič, Ivan; Fležar, Matjaž; Vigdorovici, Marcela; Мартыненко, Т.И.; Перцева, Т. О.; Camprubí, Sandra

doi:10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a4360

Cited by 3 publications

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“…Similarly, two Spanish screening studies in two samples of 2137 and 596 patients with COPD provided diagnostic rates of 0.37 and 0.34% for PiZZ, respectively [24,25]. More recently, a screening of non-selected samples of COPD patients, ranging from 1000 to 2000 individuals, from Romania, Hungary, Bulgaria, Lithuania, Latvia and Russia provided modest PiZZ detection rates of between 0.11% and 0.75% [26].…”

Section: Discussionmentioning

confidence: 97%

Prevalence of α₁-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review

et al. 2020

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The percentage of α1-antitrypsin protease inhibitor ZZ (PiZZ) genotypes in patients with COPD is controversial, with large differences among various studies. We aimed to estimate the prevalence of PiZZ in COPD patients from 20 European countries with available data, according to the number of PiZZ and COPD individuals in each country.A systematic review was conducted to select European countries with reliable data on the prevalence of PiZZ and COPD. We created a database with the following data: 1) total population and population aged ≥40 years according to the Eurostat database; 2) number and 95% CI of PiZZ patients aged ≥40 years; 3) application of a conversion factor of genetic penetrance of 60%; 4) number of COPD individuals, with 95% CI, aged ≥40 years; and 5) calculation of the PiZZ/COPD ratio. Finally, results were presented using an Inverse Distance Weighted Interpolation map.We found 36 298 (95% CI 23 643–56 594) PiZZ individuals at high risk and 30 849 709 (95% CI 21 411 293–40 344 496) COPD patients, with a PiZZ/COPD ratio of 0.12% (range 0.08–0.24%), and a prevalence of 1 out of 408 in Northern, 1 out of 944 in Western, 1 out of 1051 in Central, 1 out of 711 in Southern, and 1 out of 1274 in Eastern Europe.These data may be useful to plan strategies for future research and diagnosis, and to rationalise the available therapeutic resources.

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Section: Discussionmentioning

confidence: 97%

Prevalence of α₁-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review

et al. 2020

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“…Adherence to these recommendations seems to be incomplete: A recent study found that in a cohort of COPD patients only 2% were tested although AATD prevalence was 24% in the tested patients [27]. Another recent analysis revealed that 9% of COPD/emphysema and 7% of bronchiectasis patients in a large Central and Eastern European cohort were bearing the Pi*ZZ phenotype, confirming that the detection of AATD in these populations is necessary [28]. Yet, the question if brochiectasis patients should be tested for AATD remains unclear as a recent study from the United Kingdom observed that only 0.5% of 1,600 tested bronchiectasis patients had severe AATD [29].…”

Section: Discussionmentioning

confidence: 99%

The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry

et al. 2023

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Background Alpha-1-antitrypsin (AAT) deficiency (AATD) is a genetic disorder that can manifest as lung disease. A delay between onset of symptoms and diagnosis of AATD is common and associated with worse clinical status and more advanced disease stage but the influence on survival is unclear. Objective We aimed to investigate the impact of diagnostic delay on overall survival (OS) and transplant-free survival (TS) in AATD patients. Methods We analysed 268 AATD patients from the prospective multi-centre Austrian Alpha-1 Lung (AAL) Registry, employing descriptive statistics, Chi-square-test as well as univariable (Kaplan–Meier plots, log-rank test) and multivariable survival analysis (Cox regression). Results The predominant phenotype was Pi*ZZ (82.1%). At diagnosis, 90.2% had an AAT level below 0.6 g/L. At inclusion, 28.2% had never smoked, 68.0% had quit smoking and 3.8% continued to smoke. Lung disease was diagnosed in 98.5%, thereof most patients were diagnosed with emphysema (63.8%) and/or chronic obstructive pulmonary disease (44.0%). Median diagnostic delay was 5.3 years (inter-quartile range [IQR] 2.2–11.5 years). In multivariable analysis (n = 229), a longer diagnostic delay was significantly associated with worse OS (hazard ratio [HR] 1.61; 95% CI 1.09–2.38; p = 0.016) and TS (HR 1.43; 95% CI 1.08–1.89; p = 0.011), independent from age, smoking status, body mass index (BMI), forced expiratory volume in one second (FEV1) and long-term oxygen treatment. Furthermore, BMI, age and active smoking were significantly associated with worse OS as well as BMI, active smoking and FEV1 were with worse TS. Conclusions A delayed diagnosis was associated with significantly worse OS and TS. Screening should be improved and efforts to ensure early AATD diagnosis should be intensified.

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“…Most individuals with genotypes associated with normal resting levels of >1•1g/L do not have an associated increased risk of lung or liver disease. Recent evidence suggest that levels of over 1•04g/L carry a 99•8% negative predictive value for the presence of the PiZZ genotype even amongst patients with symptoms of AATD related disease 30 .…”

Section: Detection Of Aatdmentioning

confidence: 99%

Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians

Franciosi

Carroll

McElvaney

2019

The Lancet Respiratory Medicine

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European Screening For Alpha1-Antitrypsin Deficiency In Subjects With Lung Disease

Cited by 3 publications

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Prevalence of α₁-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review

Prevalence of α₁-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review

The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry

Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians

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European Screening For Alpha1-Antitrypsin Deficiency In Subjects With Lung Disease

Cited by 3 publications

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Prevalence of α1-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review

Prevalence of α1-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review

The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry

Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians

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Prevalence of α₁-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review

Prevalence of α₁-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review