Portuguese consensus document for the management of alpha-1-antitrypsin deficiency
A.P. Lopes,
M.A. Mineiro,
F. Costa,
J. Gomes,
C. Santos,
C. Antunes,
D. Maia,
R. Melo,
M. Canotilho,
E. Magalhães,
I. Vicente,
C. Valente,
B.G. Gonçalves,
B. Conde,
C. Guimarães,
C. Sousa,
J. Amado,
M.E. Brandão,
M. Sucena,
M.J. Oliveira,
S. Seixas,
V. Teixeira,
L. Telo
Affiliations
A.P. Lopes
Centro Hospitalar e Universitário de Coimbra (HUC); Alpha-1-antitrypsin deficiency study group coordinator; Corresponding author.
M.A. Mineiro
Centro Hospital Lisboa Central
F. Costa
Centro Hospitalar e Universitário de Coimbra (HG)
J. Gomes
Centro Hospitalar do Porto
C. Santos
Centro Hospitalar Lisboa Norte
C. Antunes
Centro Hospitalar Lisboa Norte
D. Maia
Centro Hospital Lisboa Central
R. Melo
Hospital Prof. Doutor Fernando da Fonseca
M. Canotilho
Centro Hospitalar de Leiria
E. Magalhães
Centro Hospitalar da Cova da Beira
I. Vicente
Centro Hospitalar da Cova da Beira
C. Valente
Centro Hospitalar do Baixo Vouga
B.G. Gonçalves
Centro Hospitalar e Universitário de Coimbra (HUC)
B. Conde
Centro Hospitalar de Trás os Montes e Alto Douro
C. Guimarães
Hospital da Senhora da Oliveira – Guimarães
C. Sousa
Centro Hospitalar de São João
J. Amado
Unidade Local de Saúde de Matosinhos
M.E. Brandão
Centro Hospitalar de Trás os Montes e Alto Douro
M. Sucena
Centro Hospitalar de São João
M.J. Oliveira
Centro Hospital de Gaia-Espinho
S. Seixas
Instituto de Investigação e Inovação em Saúde, Universidade do Porto (I3S); Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
V. Teixeira
Serviço de Saúde da Região Autónoma da Madeira (SESARAM)
Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in reaching a diagnosis and in making therapeutic decisions in this group of patients. This raised a need to draft a document expressing a national consensus for AATD. To this end, a group of experts in this field was created within the Portuguese Pulmonology Society - Study group on AATD, in order to elaborate the current manuscript. The authors reviewed the existing literature and provide here general guidance and extensive recommendations for the diagnosis and management of AATD that can be adopted by Portuguese clinicians from different areas of Medicine.This article is part of a supplement entitled “Portuguese consensus document for the management of alpha-1-antitrypsin deficiency” which is sponsored by Sociedade Portuguesa de Pneumologia. Keywords: Alpha 1-Antitrypsin Deficiency, Consensus, Diagnosis, Therapeutics, Pulmonary Emphysema
