Alpha-1 Antitrypsin Deficiency: Principles of Care


  • Joana F. Rodrigues CSL Behring. Lisboa.
  • Alexandra Mineiro Pulmonary Department. Centro Hospitalar Lisboa Central. Lisboa.
  • António Reis Pulmonary Department. Centro Hospitalar Tondela-Viseu. Viseu.
  • David G. Ventura CSL Behring. Lisboa.
  • Fernando Fernandez-Llimos Laboratory of Pharmacology. Department of Drug Sciences. Faculty of Pharmacy. University of Porto. Porto.
  • Filipa Costa Pulmonary Department. Centro Hospitalar Universitário de Coimbra. Coimbra.
  • Joana Gomes Pulmonary Department. Centro Hospitalar do Porto. Porto.
  • José Manuel Silva Pulmonary Department. Unidade Local de Saúde da Guarda. Hospital Sousa Martins. Guarda.
  • Paulo Lopes Pulmonary Department. Centro Hospitalar Universitário de Coimbra. Coimbra.
  • Carlos Robalo Cordeiro Pulmonary Department. Centro Hospitalar Universitário de Coimbra. Coimbra.



alpha 1-Antitrypsin Deficiency/therapy, Health Care Quality, Access, and Evaluation, Professional Practice, Standard of Care


Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and liver disease. There is currently no cure for alpha-1 antitrypsin deficiency. However, appropriate treatment and a high standard of clinical care can prevent patients from being seriously affected and having to undergo major medical interventions, such as organ transplantation. Beyond managing the symptoms associated with alpha-1 antitrypsin deficiency, alpha-1 proteinase inhibitor therapy is the only treatment for the condition’s underlying cause. Early diagnosis is important to ensure efficient therapeutic strategies and to minimize further deterioration of lung function. alpha-1 antitrypsin deficiency is under diagnosed globally, partly because the disease has no unique presenting symptoms. This document was prepared by a Portuguese multidisciplinary group and it aims to set out comprehensive principles of care for Alpha-1 antitrypsin deficiency. These include the importance of registries, the need for clinical research, the need for consistent recommendations (regarding diagnosis, treatment and monitoring), the role of reference centres, the requirement for sustained access to treatment, diagnostic and support services, and the role of patient organizations.


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How to Cite

Rodrigues JF, Mineiro A, Reis A, Ventura DG, Fernandez-Llimos F, Costa F, Gomes J, Silva JM, Lopes P, Cordeiro CR. Alpha-1 Antitrypsin Deficiency: Principles of Care. Acta Med Port [Internet]. 2020 Jun. 1 [cited 2023 Mar. 26];33(6):433-9. Available from: