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Arch Bronconeumol. 2015 Apr;51(4):185-92. doi: 10.1016/j.arbres.2014.05.008. Epub 2014 Jul 12.

Indications for active case searches and intravenous alpha-1 antitrypsin treatment for patients with alpha-1 antitrypsin deficiency chronic pulmonary obstructive disease: an update.

[Article in English, Spanish]

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Unidad de Gestión Clínica de Neumología, Hospital Universitario San Cecilio, Granada, España.
Registro Español de pacientes con déficit de alfa-1 antitripsina, Fundación Española de Pulmón, Respira, SEPAR.
Servicio de Neumología, Hospital Universitario Doce de Octubre, Madrid, España.
Servicio de Neumología, Hospital de Sierrallana, Torrelavega, Cantabria, España.
Servicio de Neumología, Hospital Universitari Vall d'Hebron, CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, España.
Servicio de Neumología, Hospital Clínico Universitario de Salamanca, Salamanca, España.
Servicio de Neumología, Hospital General de la Palma, La Palma, Santa Cruz de Tenerife, España.
Servicio de Neumología, Hospital Universitario de Burgos, Burgos, España.
Servicio de Bioquímica, Hospital Universitari Vall d'Hebron, Barcelona, España.
Servicio de Neumología, Complexo Universitario de Vigo, Pontevedra, España.
Servicio de Neumología, Hospital Universitario Arnau de Vilanova, Lleida, España. Electronic address:


The effect of hereditary alpha-1 antitrypsin (AAT) deficiency can manifest clinically in the form of chronic obstructive pulmonary disease (COPD). AAT deficiency (AATD) is defined as a serum concentration lower than 35% of the expected mean value or 50 mg/dl (determined by nephelometry). It is associated in over 95% of cases with Pi*ZZ genotypes, and much less frequently with other genotypes resulting from combinations of Z, S, rare and null alleles. A systematic qualitative review was made of 107 articles, focusing mainly on an active search for AATD in COPD patients and intravenous (iv) treatment with AAT. On the basis of this review, the consultant committee of the Spanish Registry of Patients with AATD recommends that all COPD patients be screened for AATD with the determination of AAT serum concentrations, and when these are low, the evaluation must be completed with phenotyping and, on occasions, genotyping. Patients with severe AATD COPD should receive the pharmacological and non-pharmacological treatment recommended in the COPD guidelines. There is enough evidence from large observational studies and randomized placebo-controlled clinical trials to show that the administration of iv AAT reduces mortality and slows the progression of emphysema, hence its indication in selected cases that meet the inclusion criteria stipulated in international guidelines. The administration of periodic infusions of AAT is the only specific treatment for delaying the progression of emphysema associated with AATD.


Alpha-1 antitrypsin deficiency; Diagnoses; Diagnóstico; Déficit de alfa-1 antitripsina; Registro de Pacientes con Déficit de Alfa-1 Antitripsina; Spanish Registry of Patients with alpha-1 antitrypsin deficiency; Tratamiento; Treatment

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