Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency (AATD) is a genetic condition which increases the risk of lung and/or liver diseases.

AATD is the only known genetic risk factor for emphysema and COPD. Therefore, as stated by the European Respiratory Society guidelines, all patients with COPD and adult-onset bronchial asthma should be tested for AATD.

“It is estimated than less than 10% of subjects with AATD have been identified. There is an urgent need to ensure all COPD patients are tested. This is a simple and achievable goal.” Professor Joanna Chorostowska-Wynimko, ERS Secretary General

Alpha-1 antitrypsin in numbers

in 2017 in Europe.

The charts below present the data identified for Alpha-1 antitrypsin in Europe. This information was taken from a 2017 study which conducted systematic searches and reviewed studies reporting the frequency of the Z allele. This genetic variant of the SERPINA1 gene is present in 98% of cases of Alpha-1 antitrypsin with severe disease.

Estimates were available for 24 European countries. These estimates were then used to calculate the likely prevalence, and the number of individuals with Alpha-1 antitrypsin in each country. Modelling was conducted for countries with no published data to give a total number in Europe.

Study used:

  • Blanco I, Bueno P, Diego I, et al. Alpha-1 antitrypsin Pi Z gene frequency and Pi ZZ genotype numbers worldwide: an update. International Journal of COPD 2017; 12: 561-569.

All charts are freely available to download by clicking the three dots in the top right-hand corner. Please reference Lung Facts when sharing.

  • Prevalence rate
  • Prevalence number