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Survival in the Swedish cohort with alpha-1-antitrypsin deficiency, up to the age of 43-45 years

Mostafavi, Behrouz LU ; Piitulainen, Eeva LU and Tanash, Hanan A. LU (2019) In International Journal of COPD 14. p.525-530
Abstract

Alpha-1-antitrypsin deficiency (AATD) is a hereditary disorder. AATD is a known risk factor for the development of emphysema and liver disease. A cohort of severe (PiZZ) and moderate (PiSZ) AAT-deficient newborn infants was identified by the Swedish national neonatal AAT screening in 1972-1974 and has been followed up since birth. Our aim was to study survival in this cohort up to 43-45 years of age in comparison with the general Swedish population. Methods: Data from 127 PiZZ, 2 PiZnull, 54 PiSZ, and 1 PiSnull subjects, who were identified by the neonatal screening in 1972-1974, were included in the study. To compare death rates in the PiZZ and PiSZ individuals with the general Swedish population, a standardized mortality ratio (SMR)... (More)

Alpha-1-antitrypsin deficiency (AATD) is a hereditary disorder. AATD is a known risk factor for the development of emphysema and liver disease. A cohort of severe (PiZZ) and moderate (PiSZ) AAT-deficient newborn infants was identified by the Swedish national neonatal AAT screening in 1972-1974 and has been followed up since birth. Our aim was to study survival in this cohort up to 43-45 years of age in comparison with the general Swedish population. Methods: Data from 127 PiZZ, 2 PiZnull, 54 PiSZ, and 1 PiSnull subjects, who were identified by the neonatal screening in 1972-1974, were included in the study. To compare death rates in the PiZZ and PiSZ individuals with the general Swedish population, a standardized mortality ratio (SMR) was calculated as the ratio of observed to expected deaths. Results: Seven PiZZ subjects died during the follow-up, to be compared with an expected 3.66 deaths for the general population, giving an SMR of 1.91 (95% CI 0.77-3.94). Four PiSZ subjects died compared to an expected 1.53 deaths, giving an SMR of 2.61 (95% CI 0.71-6.71). The cumulative probability of survival up to the age of 45 years was 94% (95% CI 90%-98%) for the study population. Six deaths occurred before the age of 8 years. Conclusion: Up to 43-45 years of age, there was no difference in survival between PiZZ and PiSZ individuals in comparison with the Swedish general population. The majority of deaths occurred during childhood.

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author
; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Alpha-1-antitrypsin deficiency, Causes of death, Screening, Survival
in
International Journal of COPD
volume
14
pages
6 pages
publisher
Dove Medical Press Ltd.
external identifiers
  • pmid:30880942
  • scopus:85062979933
ISSN
1176-9106
DOI
10.2147/COPD.S183205
language
English
LU publication?
yes
id
a7d03e26-18a6-40a1-bf6b-41926a84f2b7
date added to LUP
2019-03-28 13:59:01
date last changed
2024-04-02 00:11:45
@article{a7d03e26-18a6-40a1-bf6b-41926a84f2b7,
  abstract     = {{<p>Alpha-1-antitrypsin deficiency (AATD) is a hereditary disorder. AATD is a known risk factor for the development of emphysema and liver disease. A cohort of severe (PiZZ) and moderate (PiSZ) AAT-deficient newborn infants was identified by the Swedish national neonatal AAT screening in 1972-1974 and has been followed up since birth. Our aim was to study survival in this cohort up to 43-45 years of age in comparison with the general Swedish population. Methods: Data from 127 PiZZ, 2 PiZnull, 54 PiSZ, and 1 PiSnull subjects, who were identified by the neonatal screening in 1972-1974, were included in the study. To compare death rates in the PiZZ and PiSZ individuals with the general Swedish population, a standardized mortality ratio (SMR) was calculated as the ratio of observed to expected deaths. Results: Seven PiZZ subjects died during the follow-up, to be compared with an expected 3.66 deaths for the general population, giving an SMR of 1.91 (95% CI 0.77-3.94). Four PiSZ subjects died compared to an expected 1.53 deaths, giving an SMR of 2.61 (95% CI 0.71-6.71). The cumulative probability of survival up to the age of 45 years was 94% (95% CI 90%-98%) for the study population. Six deaths occurred before the age of 8 years. Conclusion: Up to 43-45 years of age, there was no difference in survival between PiZZ and PiSZ individuals in comparison with the Swedish general population. The majority of deaths occurred during childhood.</p>}},
  author       = {{Mostafavi, Behrouz and Piitulainen, Eeva and Tanash, Hanan A.}},
  issn         = {{1176-9106}},
  keywords     = {{Alpha-1-antitrypsin deficiency; Causes of death; Screening; Survival}},
  language     = {{eng}},
  pages        = {{525--530}},
  publisher    = {{Dove Medical Press Ltd.}},
  series       = {{International Journal of COPD}},
  title        = {{Survival in the Swedish cohort with alpha-1-antitrypsin deficiency, up to the age of 43-45 years}},
  url          = {{http://dx.doi.org/10.2147/COPD.S183205}},
  doi          = {{10.2147/COPD.S183205}},
  volume       = {{14}},
  year         = {{2019}},
}