Advanced

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.

(Less)
Please use this url to cite or link to this publication:
author
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 Press
external identifiers
  • 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
2019-04-23 04:47:31
@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},
  keyword      = {Alpha-1-antitrypsin deficiency,Causes of death,Screening,Survival},
  language     = {eng},
  pages        = {525--530},
  publisher    = {Dove Press},
  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},
  volume       = {14},
  year         = {2019},
}