Survival in the Swedish cohort with alpha-1-antitrypsin deficiency, up to the age of 43–45 years
Authors Mostafavi B, Piitulainen E, Tanash HA
Received 8 August 2018
Accepted for publication 28 November 2018
Published 28 February 2019 Volume 2019:14 Pages 525—530
Checked for plagiarism Yes
Review by Single-blind
Peer reviewers approved by Dr Charles Downs
Peer reviewer comments 4
Editor who approved publication: Dr Richard Russell
Behrouz Mostafavi, Eeva Piitulainen, Hanan A Tanash
Department of Respiratory Medicine and Allergology, Skåne University Hospital, Lund University, Malmö, Sweden
Background: 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.
Keywords: alpha-1-antitrypsin deficiency, causes of death, screening, survival
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