This website provides information on patients with mutations in the SERPINA1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the SERPINA1 gene is called alpha1 antitrypsin deficiency (AATD). Its most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age.
Not all individuals with a mutation in the SERPINA1 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SERPINA1 gene.

Aleksandra Jezela-Stanek, MD, PhD, Prof, Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland, jezela@gmail.com

Joanna Chorostowska-Wynimko, MD, PhD, Prof, Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw.