Alpha-1 antitrypsin deficiency (AATD) is a common but under-recognised genetic condition that affects approximately 1 in 2000 to 1 in 5000 individuals and predisposes to early-onset emphysema and liver disease [1]. Alpha-1 antitrypsin (AAT) is mainly produced in the liver, and its main function is to protect the lung against proteolytic damage, especially from neutrophil elastase [2]. To date, more than 100 variant alleles of the AAT gene ( SERPINA1 ) have been described, but the Z allele is the most prevalent and responsible for severe AATD leading to lung and liver disease [3]. The European Alpha-1 Research Collaboration (EARCO) will promote international research in alpha-1 antitrypsin deficiency We want to acknowledge the support from Elise Heuvelin and Cèline Genton (European Respiratory Society, Lausanne, Switzerland) in the logistics and organisation of EARCO.
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Miravitlles et al. (2019) studied this question.
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