Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that can lead to liver disease as well as chronic obstructive pulmonary disease (COPD) or bronchiectasis (a chronic lung disease involving widened airways). While it is already known that gender-specific differences play a role in COPD, meaningful data for AATD has been lacking due to the low number of cases of this rare disease in individual countries.

The current analysis was based on data from over 1,200 patients with the genetic variant PiZZ from the EARCO registry – a collaboration of more than 20 countries dedicated to studying the rare disease AATD. About half of the participants were women. The analysis also took into account that men and women perceive illness differently, express symptoms differently and utilize health services in different ways.

Disease manifestations differed between the sexes, with men more frequently diagnosed with liver disease, chronic bronchitis, COPD or emphysema and women more often with bronchiectasis. These differences can be explained in part—but not entirely—by behavioral differences such as smoking, alcohol use, or occupational exposure to harmful substances. Being female was also found to be an independent risk factor for a higher symptom burden and more frequent exacerbations (acute worsening of the condition)—regardless of age, body weight, or smoking habits.

“Our study shows that women with AATD display different disease patterns and respond differently to stressors than men,” says study leader Professor Franziska Trudzinski. “These findings underscore the need for gender-specific treatment approaches, particularly with regard to symptom management and prevention.”

The study also emphasizes the importance of early diagnosis and individually tailored health programs that take into account gender-specific differences in risk behavior and disease progression.

Orginalpublikation

Ersöz H, Torres-Durán M, Turner AM, Tanash H, Rodríguez García C, Corsico AG, López-Campos JL, Miravitlles M, Clarenbach CF, Chapman KR, Hernández Pérez JM, Guimarães C, Bartošovská E, Greulich T, Barrecheguren M, Koczulla AR, Höger P, Olivares Rivera A, Herth F, Trudzinski FC; EARCO study investigators. Sex-Differences in Alpha-1 Antitrypsin Deficiency: Data From the EARCO RegistryArch Bronconeumol. 2025 Jan;61(1):22-30. doi: 10.1016/j.arbres.2024.06.019. Epub 2024 Jul 9. PMID: 39068055

For more information on the study and the EARCO registry, please visit:: www.earco-registry.org