Alpha1-antitrypsin deficiency in Greece: Focus on rare variants

Papiris, Spyros; Veith, Martina; Papaioannou, Andriana Ι.; Apollonatou, V.; Ferrarotti, Ilaria; Ottaviani, Stefania; Tzouvelekis, A.; Tzilas, Vasilios; Rovina, N.; Stratakos, G.; Gerogianni, I.; Daniil, Z.; Kolilekas, L.; Dimakou, Katerina; Pitsidianakis, G.; Tzanakis, N.; Tryfon, S.; Fragopoulos, F.; Antonogiannaki, E.M.; Lazaratou, A.; Fouka, E.; Papakosta, D.; Emmanouil, P.; Anagnostopoulos, N.; Karampitsakos, T.; Vlami, K.; Kallieri, Maria; Lyberopoulos, P.; Loukides, S.; Bouros, D.; Bush, Andrew; Balduyck, Malika; Lombard, Christine; Cottin, Vincent; Mornex, Jean‐François; Vogelmeier, Claus; Greulich, Timm; Manali, Effrosyni D.

doi:10.1016/j.pulmoe.2022.12.007

Cited by 6 publications

(3 citation statements)

References 42 publications

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“…Accordingly, it is estimated that in Greece approximately 4000 patients are suffering from A1ATD deficiency and identified cases should range from 9 to 100. A recent cohort collecting cases from numerous centers all over the country detected 45 diagnosed patients, a number very comparable to the cohorts of other studies 3 . The long diagnostic delays between the first symptom and initial diagnosis and the frequent need for affected individuals to see multiple healthcare providers before initial recognition, cause delays in offering them appropriate augmentation treatment which is known to delay disease progression 4 .…”

Section: Introductionsupporting

confidence: 74%

Lack of awareness for alpha-1 antitrypsin deficiency: A single-center retrospective study

Zaneli,

Vafeiadis,

Bartziokas

et al. 2024

Pneumon

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Section: Introductionsupporting

confidence: 74%

Lack of awareness for alpha-1 antitrypsin deficiency: A single-center retrospective study

Zaneli,

Vafeiadis,

Bartziokas

et al. 2024

Pneumon

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“…Ferrarotti et al described eight PI*MQ0 subjects who were affected by emphysema, asthma orchronic bronchitis, independent of their smoking habit [27]. Papiris et al identified seven nonsmoking PI*M heterozygotes with rare deficient or null variants among 45 Greek adults with early-onset pulmonary emphysema and low serum AAT levels [28]. Finally, Ortega et al, in a cohort of heavy smokers with COPD drawn from the SPIROMICS study, observed that every PI*M heterozygosity for each Z, S or rare allele variant was associated with increased CT scan-based emphysema and functional small-airway diseases.…”

Section: Discussionmentioning

confidence: 99%

Alpha-1 Antitrypsin PI M Heterozygotes with Rare Variants: Do They Need a Clinical and Functional Follow-Up?

Annunziata,

Fiorentino,

Balestrino

et al. 2024

JCM

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(1) Background: Few data are available on the risk of airway dysfunction in protease inhibitor (PI*) M heterozygotes carrying rare null or deficient allelic variants of the gene SERPINA-1 (PI*MR). (2) Methods: In this observational study, in a cohort of PI*MR heterozygotes, we evaluated respiratory functional parameters at baseline and at one-year follow-up. Moreover, we compared such parameters with those of the PI*MZ and PI*MS patients. (3) Results: A total of 60 patients were recruited; 35 PI*MR, 11 PI*MZ and 14 PI*MS. At the annual follow-up, the PI*MR and PI*MZ patients demonstrated a significantly higher FEV1 decline than the PI*MS group (p =0.04 and p =0.018, respectively). The PI*MR patients showed a significant increase in DLCO annual decline in comparison with the PI*MS group (p =0.02). At baseline, the PI*MR smoking patients, compared with nonsmokers, showed statistically significant lower values of FEV1, FEV1/FVC and DLCO (p =0.0004, p <0.0001, p =0.007, respectively) and, at the one-year follow-up,they displayed a significantly higher FEV1 and DLCO decline (p =0.0022, p =0.011, respectively). PI*MR heterozygotes with COPD showed a significantly higher FEV1, FEV1/FVC and DLCO annual decline in comparison with healthy PI*MR (p =0.0083, p =0.043, p =0.041). (4) Conclusions: These results suggest that PI*MR heterozygotes, particularly smokers with COPD, have a greater annual decline in respiratory functional parameters and need to be monitored.

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“…The gold standard to detect AATD is DNA sequencing, especially for rarer variants extended molecular techniques are required, such as whole exome sequencing [73]. A recent study in Greece observed several new rare variants by sequencing and these variants appear to be pathogenic as they were detected in patients with early emphysema and lower than normal AAT levels [74]. Non-coding DNA may be an important area to be assessed [75].…”

Section: Screening and Diagnosis Of Aatdmentioning

confidence: 99%

Testing Alpha-1 Antitrypsin Deficiency in Black Populations

Lafortune,

Zahid,

Ploszaj

et al. 2023

ARM

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Alpha-1 antitrypsin (AAT) deficiency (AATD) is an under-recognized hereditary disorder and a significant cause of chronic obstructive pulmonary disease (COPD), a disease that contributes to global mortality. AAT is encoded by the SERPINA1 gene, and severe mutation variants of this gene increase the risk of developing COPD. AATD is more frequently screened for in non-Hispanic White populations. However, AATD is also observed in other ethnic groups and very few studies have documented the mutation frequency in these other ethnic populations. Here, we review the current literature on AATD and allele frequency primarily in Black populations and discuss the possible clinical outcomes of low screening rates in a population that experiences poor health outcomes and whether the low frequency of AATD is related to a lack of screening in this population or a truly low frequency of mutations causing AATD. This review also outlines the harmful SERPINA1 variants, the current epidemiology knowledge of AATD, health inequity in Black populations, AATD prevalence in Black populations, the clinical implications of low screening of AATD in this population, and the possible dangers of not diagnosing or treating AATD.

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Alpha1-antitrypsin deficiency in Greece: Focus on rare variants

Cited by 6 publications

References 42 publications

Lack of awareness for alpha-1 antitrypsin deficiency: A single-center retrospective study

Lack of awareness for alpha-1 antitrypsin deficiency: A single-center retrospective study

Alpha-1 Antitrypsin PI M Heterozygotes with Rare Variants: Do They Need a Clinical and Functional Follow-Up?

Testing Alpha-1 Antitrypsin Deficiency in Black Populations

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