Estimated Worldwide Prevalence of the PI*ZZ Alpha-1 Antitrypsin Genotype in Subjects With Chronic Obstructive Pulmonary Disease

Abstract

Introduction: The prevalence of α1-antitrypsin PI*ZZ genotypes in patients with COPD is only partially known. We aimed to estimate this prevalence worldwide.

Method: A systematic review of the literature was conducted for studies investigating the prevalence of COPD and the prevalence of severe alpha-1-antitrypsin deficiency (AATD) PI*ZZ genotype. Results are shown in tables and on a whole world interpolation map.

Results: Studies from 48 countries with available data (21 from Europe, 9 from the Americas, 5 from Africa, 11 from Asia and 2 from Australasia) were selected. About 235,000 individuals with PI*ZZ genotypes were accounted: 50% in Europe, 37% in America, 9% in Asia, 3% in Australasia and 1% in Africa. The estimated crude prevalence of COPD in adults older than 40 years was 12.45% in Europe, 13.51% in America, 13.22% in Africa, 11.70% in Asia and 11.86% in Australasia. The highest PI*ZZ weighted average prevalence among COPD subjects (expressed as 1/x [95% confidence intervals]) were found in Northern Europe (395 [252-576]) followed by Western (797 [538-1165]), Southern (944 [600-1475]) and Central Europe (1096 [687-1738]). Outside Europe, high values were found in Australia-New Zealand (1007 [684-1509]), Saudi Arabia (1276 [563-2961]), United States (1298 [1094-1540]), Canada (1482 [1057-2083]) and Thailand (1807 [717-4692]). In the rest of the world, prevalence was significantly lower, especially in vast regions of Asia and Africa where the PI*Z gene is practically non-existent.

Conclusions: Severe AATD is associated with a significant number of cases of COPD, especially in Europe, USA, Canada, New Zealand and Australia.

Keywords: Alpha-1 antitrypsin deficiency; COPD; Chronic obstructive pulmonary disease; Geographic Information Systems (GIS) technology; Inverse distance weighted (IDW) interpolation; PI*ZZ genotype; Prevalence; SERPINA1.