Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis

Lara, Beatríz; Blanco, Ignacio; Martínez, María Teresa; Rodrı́guez, Esther; Bustamante, Ana; Casas, Francisco; Cadenas, Sergio; Hernández, José Manuel González; Lázaro, Lourdes; Torres, María Luisa García; Curi, Sergio; Esquinas, Cristina; Dası́, Francisco; Escribano, Amparo; Herrero, Inés Martínez; Martı́nez-Delgado, Beatriz; Michel, Francisco Javier; Rodríguez‐Frías, Francisco; Miravitlles, Marc

doi:10.1016/j.arbr.2016.11.013

Cited by 17 publications

(16 citation statements)

References 19 publications

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“…Nowadays, different national registries provide the exact prevalence of AATD. However, it is still not considered sufficiently by physicians in the diagnostic phase [ 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Alpha 1 antitrypsin distribution in an allergic asthmatic population sensitized to house dust mites

Suárez-Lorenzo

Castro

Cruz-Niesvaara³

et al. 2018

Clin Transl Allergy

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Background and objectiveSevere alpha1 antitrypsin deficiency has been clearly associated with pulmonary emphysema, but its relationship with bronchial asthma remains controversial. Some deficient alpha 1 antitrypsin (AAT) genotypes seem to be associated with asthma development. The objective of this study was to analyze the distribution of AAT genotypes in asthmatic patients allergic to house dust mites (HDM), and to asses a possible association between these genotypes and severe asthma.MethodsA cross-sectional cohort study of 648 patients with HDM allergic asthma was carried out. Demographic, clinical and analytical variables were collected. PI*S and PI*Z AAT deficient alleles of the SERPINA1 gene were assayed by real-time PCR.ResultsAsthma was intermittent in 253 patients and persistent in 395 patients (246 mild, 101 moderate and 48 severe). One hundred and forty-five asthmatic patients (22.4%) with at least one mutated allele (S or Z) were identified. No association between the different genotypes and asthma severity was found. No significant differences in all clinical and functional tests, as well as nasal eosinophils, IgA and IgE serum levels were observed. Peripheral eosinophils were significantly lower in patients with the PI*MS genotype (p = 0.0228). Neither association between deficient AAT genotypes or serum ATT deficiency (AATD) and development of severe asthma, or correlation between ATT levels and FEV1 was observed.ConclusionIn conclusion, the distribution of AAT genotypes in HDM allergic asthmatic patients did not differ from those found in Spanish population. Neither severe ATTD or deficient AAT genotypes appear to confer different clinical expression of asthma.

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“…Nowadays, different national registries provide the exact prevalence of AATD. However, it is still not considered sufficiently by physicians in the diagnostic phase [ 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Alpha 1 antitrypsin distribution in an allergic asthmatic population sensitized to house dust mites

Suárez-Lorenzo

Castro

Cruz-Niesvaara³

et al. 2018

Clin Transl Allergy

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“…Many different national registries on AATD exist throughout Europe [14,[17][18][19][20][21][22][23], but inclusion criteria, variables collected and level of quality control are different. The EARCO registry will harmonise the collection of prospective data, and its design will allow the new prospectively recorded data to be linked with the historical data collected in the different national registries.…”

Section: Discussionmentioning

confidence: 99%

“…EARCO takes advantage of existing AATD registries that have been developed at the national and international level. Several countries have established registries in which AATD patients are included and followed-up with clinical and biological data collected [14,[17][18][19][20][21][22][23]. However, these registries differ in terms of inclusion criteria, data collected and frequency and extent of follow-up.…”

Section: Introductionmentioning

confidence: 99%

Protocol for the EARCO Registry: a pan-European observational study in patients with α₁-antitrypsin deficiency

et al. 2020

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Rationale and objectivesAlpha-1 antitrypsin deficiency (AATD) is a genetic condition that leads to an increased risk of emphysema and liver disease. Despite extensive investigation, there remain unanswered questions concerning the natural history, pathophysiology, genetics and the prognosis of the lung disease in association with AATD. The European Alpha-1 Clinical Research Collaboration (EARCO) is designed to bring together researchers from European countries and to create a standardised database for the follow-up of patients with AATD.Study design and populationThe EARCO Registry is a non-interventional, multicentre, pan-European, longitudinal observational cohort study enrolling patients with AATD. Data will be collected prospectively without interference/modification of patient's management by the study team. The major inclusion criterion is diagnosed severe AATD, defined by an AAT serum level <11 µM (50 mg·dL−1) and/or a proteinase inhibitor genotype ZZ, SZ or compound heterozygotes or homozygotes of other rare deficient variants. Assessments at baseline and during the yearly follow-up visits include lung function testing (spirometry, body plethysmography and diffusing capacity of the lung), exercise capacity, blood tests and questionnaires (symptoms, quality of life and physical activity). To ensure correct data collection, there will be designated investigator staff to document the data in the case report form. All data will be reviewed by the EARCO database manager.SummaryThe EARCO Registry aims to understand the natural history and prognosis of AATD better with the goal to create and validate prognostic tools to support medical decision-making.

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“…The REDAAT was established in 1992 and includes patients with severe AATD (Pi*ZZ, Pi*SZ and carriers of rare deficient variants) with and without augmentation therapy from 153 centers in Spain. 8 , 9 Clinical and spirometric data from the follow-up of registered individuals are included in this registry.…”

Section: Methodsmentioning

confidence: 99%

Long-term evolution of lung function in individuals with alpha-1 antitrypsin deficiency from the Spanish registry (REDAAT)

Esquinas¹,

Serreri²,

Barrecheguren³

et al. 2018

COPD

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BackgroundThe clinical course of alpha-1 antitrypsin deficiency (AATD) is very heterogeneous. It is estimated that 60% of individuals with severe AATD (Pi*ZZ) develop emphysema. The main objective of this study was to describe the outcomes of long-term lung function in individuals with AATD-associated emphysema after at least 8 years of follow-up.Materials and methodsWe performed a retrospective analysis of longitudinal follow-up data of AATD PiZZ patients from the Spanish registry (AATD Spanish Registry [REDAAT]). The main follow-up outcome was the annual rate of decline in forced expiratory volume in 1 second (FEV1) calculated using the FEV1 values at baseline and in the last post-bronchodilator spirometry available.ResultsOne hundred and twenty-two AATD PiZZ patients were analyzed. The median follow-up was 11 years (interquartile range =9–14). The mean FEV1 decline was 28 mL/year (SD=54), with a median of 33 mL/year. Tobacco consumption (β=19.8, p<0.001), previous pneumonia (β=27.8, p=0.026) and higher baseline FEV1% (β=0.798, p=0.016) were independently related to a faster FEV1 decline.ConclusionIn this large cohort with a long follow-up, we observed a very variable decline of FEV1. However, the mean FEV1 decline was similar to that observed in large cohorts of smoking-related COPD. Tobacco consumption, previous pneumonia and better lung function at baseline were related to a faster decline in FEV1. These results highlight the importance of early diagnosis and effective treatment.

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Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis

Cited by 17 publications

References 19 publications

Alpha 1 antitrypsin distribution in an allergic asthmatic population sensitized to house dust mites

Alpha 1 antitrypsin distribution in an allergic asthmatic population sensitized to house dust mites

Protocol for the EARCO Registry: a pan-European observational study in patients with α₁-antitrypsin deficiency

Long-term evolution of lung function in individuals with alpha-1 antitrypsin deficiency from the Spanish registry (REDAAT)

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Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis

Cited by 17 publications

References 19 publications

Alpha 1 antitrypsin distribution in an allergic asthmatic population sensitized to house dust mites

Alpha 1 antitrypsin distribution in an allergic asthmatic population sensitized to house dust mites

Protocol for the EARCO Registry: a pan-European observational study in patients with α1-antitrypsin deficiency

Long-term evolution of lung function in individuals with alpha-1 antitrypsin deficiency from the Spanish registry (REDAAT)

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Protocol for the EARCO Registry: a pan-European observational study in patients with α₁-antitrypsin deficiency