title: Indications for active case searches and intravenous alpha-1 antitrypsin treatment for patients with alpha-1 antitrypsin deficiency chronic pulmonary obstructive disease: an update.
abstract: 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.
authors.affiliation: Unidad de Gestión Clínica de Neumología, Hospital Universitario San Cecilio, Granada, España.
authors.forename: Francisco
authors.initials: F
authors.lastname: Casas
authors.affiliation: Registro Español de pacientes con déficit de alfa-1 antitripsina, Fundación Española de Pulmón, Respira, SEPAR.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Blanco
authors.affiliation: Servicio de Neumología, Hospital Universitario Doce de Octubre, Madrid, España.
authors.forename: María Teresa
authors.initials: MT
authors.lastname: Martínez
authors.affiliation: Servicio de Neumología, Hospital de Sierrallana, Torrelavega, Cantabria, España.
authors.forename: Ana
authors.initials: A
authors.lastname: Bustamante
authors.affiliation: Servicio de Neumología, Hospital Universitari Vall d'Hebron, CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, España.
authors.forename: Marc
authors.initials: M
authors.lastname: Miravitlles
authors.affiliation: Servicio de Neumología, Hospital Clínico Universitario de Salamanca, Salamanca, España.
authors.forename: Sergio
authors.initials: S
authors.lastname: Cadenas
authors.affiliation: Servicio de Neumología, Hospital General de la Palma, La Palma, Santa Cruz de Tenerife, España.
authors.forename: José M
authors.initials: JM
authors.lastname: Hernández
authors.affiliation: Servicio de Neumología, Hospital Universitario de Burgos, Burgos, España.
authors.forename: Lourdes
authors.initials: L
authors.lastname: Lázaro
authors.affiliation: Servicio de Neumología, Hospital Universitari Vall d'Hebron, CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, España.
authors.forename: Esther
authors.initials: E
authors.lastname: Rodríguez
authors.affiliation: Servicio de Bioquímica, Hospital Universitari Vall d'Hebron, Barcelona, España.
authors.forename: Francisco
authors.initials: F
authors.lastname: Rodríguez-Frías
authors.affiliation: Servicio de Neumología, Complexo Universitario de Vigo, Pontevedra, España.
authors.forename: María
authors.initials: M
authors.lastname: Torres
authors.affiliation: Servicio de Neumología, Hospital Universitario Arnau de Vilanova, Lleida, España. Electronic address: beat1135@gmail.com.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Lara
mesh_terms: D002986:Clinical Trials as Topic; D004311:Double-Blind Method; D056947:Enzyme Replacement Therapy / Q000379:methods*; D019317:Evidence-Based Medicine; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007262:Infusions, Intravenous; D015201:Meta-Analysis as Topic; D017410:Practice Guidelines as Topic; D029424:Pulmonary Disease, Chronic Obstructive / Q000209:etiology*; D016032:Randomized Controlled Trials as Topic; D012042:Registries; D012955:Societies, Medical; D013030:Spain / Q000453:epidemiology; D016896:Treatment Outcome; D000515:alpha 1-Antitrypsin / Q000097:blood / Q000235:genetics / Q000627:therapeutic use*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000453:epidemiology
chemical_list: D000515:alpha 1-Antitrypsin
keywords: 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