α1-Antitrypsin deficiency: count me in please!

Respiratory medicine is facing formidable challenges in the 21st century. Indeed, most respiratory medical research is becoming interconnected, translational and transnational, all embedded within so-called “planetary health” [1]. However, renewing estimates and trends from classical, descriptive epidemiology, including how many patients of a given condition are around, and how many are expected in the future, remain ongoing chores. Continuous updates from the World Health Organization’s Global Burden of Disease initiative reiterate that respiratory diseases rank high in morbidity and mortality, even with widespread underdiagnosis [2]. Perhaps there is no better example of a respiratory condition that requires further epidemiological and population refreshing than severe α1-antitrypsin deficiency (AATD). Severe AATD is considered a rare disease, which is defined as any disease that affects less than 1 in 2000 individuals [3]. The prevalence of AATD in the general population in Europe is approximately 1 in 2000–5000.