We use our own cookies and third parties ones to offer our services and collect statistical data. If you continue browsing the internet you accept them. More information

Accept
Back

Gender & Liver and AATD (English version)

03-09-2025

Gender and AATD: Sex-Differences in Alpha-1 Antitrypsin Deficiency: Data from the EARCO Registry

This study explored how sex and gender influence alpha-1 antitrypsin deficiency (AATD), a genetic condition that can lead to lung and liver diseases. Researchers analyzed data from 1,283 patients (49.3% women) in the EARCO registry, an international study on AATD.

Key Findings:

  • Women smoked less, had fewer workplace exposures to harmful substances, and drank less alcohol than men.
  • COPD (41% vs. 57%) and liver disease (11% vs. 20%) were less common in women than in men.
  • Bronchiectasis, a lung condition causing mucus buildup, was more common in women (24% vs. 13%).
  • Although women had better lung function, they reported similar levels of symptoms and exacerbations (flare-ups) as men.
  • Women were 1.6 times more likely to have flare-ups and 1.4 times more likely to have significant symptom burden, even when considering other risk factors.

Conclusion

Men with AATD are more prone to COPD and liver disease, while women are more affected by bronchiectasis and experience more frequent flare-ups and symptoms despite better lung function. These differences suggest that treatment approaches should be tailored to each sex to improve care.

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 Registry. Arch Bronconeumol. 2025 Jan;61(1):22-30. English, Spanish. doi: 10.1016/j.arbres.2024.06.019.

For more Information please read the original Paper: https://www.sciencedirect.com/science/article/pii/S0300289624002448?via%3Dihub

Liver and AADT: Longitudinal Evaluation of Individuals With Severe Alpha-1 Antitrypsin Deficiency (Pi∗ZZ Genotype)

This study focuses on the Pi∗ZZ genetic mutation, which affects the alpha-1 antitrypsin protein and can lead to liver and lung diseases. The goal was to better understand how these diseases progress and identify reliable markers to predict complications. Researchers followed 737 patients from 25 international medical centers who had no known liver conditions. They measured liver stiffness and other health indicators at the start and followed up with them over time. A second group of 135 patients with no significant liver fibrosis was also monitored for at least two years.

Key findings:

  • Over the study period (2634 patient-years), 39 individuals died, with 46% of deaths linked to liver disease and 36% to lung disease.
  • Patients who later developed serious liver disease had significantly higher liver stiffness and specific blood test markers at the start. These markers were highly accurate in predicting liver complications within five years.
  • In contrast, lung function tests were only moderately useful in predicting lung-related issues over the same period.
  • Patients without liver fibrosis at the start rarely developed it, except those with additional risk factors.

Conclusion

Non-invasive liver tests can reliably predict liver disease risk in Pi∗ZZ individuals, which could help improve routine care and guide future clinical trials.

Fromme M, Payancé A, Mandorfer M, Thorhauge KH, Pons M, Miravitlles M, Stolk J, van Hoek B, Stirnimann G, Frankova S, Sperl J, Kremer AE, Burbaum B, Schrader C, Kadioglu A, Walkenhaus M, Schneider CV, Klebingat F, Balcar L, Kappe NN, Schaefer B, Chorostowska-Wynimko J, Aigner E, Gensluckner S, Striedl P, Roger P, Ryan J, Roche S, Vögelin M, Ala A, Bantel H, Verbeek J, Mariño Z, Praktiknjo M, Gevers TJG, Reuken PA, Berg T, George J, Demir M, Bruns T, Trautwein C, Zoller H, Trauner M, Genesca J, Griffiths WJ, Clark V, Krag A, Turner AM, McElvaney NG, Strnad P. Longitudinal Evaluation of Individuals With Severe Alpha-1 Antitrypsin Deficiency (Pi∗ZZ Genotype). Gastroenterology. 2025 Feb;168(2):367-381. doi: 10.1053/j.gastro.2024.10.010.
For more Information please read the original Paper: https://www.gastrojournal.org/article/S0016-5085(24)05572-0/fulltext?referrer=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F
Read more