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Vol. 42. Issue 6.
Pages 290-298 (June 2006)
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Vol. 42. Issue 6.
Pages 290-298 (June 2006)
Review Article
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α1-Antitrypsin Deficiency: Situation in Spain and Development of a Screening Program
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Cristian de la Roza
Corresponding author
croza@clinic.ub.es

Dr. C. de la Roza. Servicio de Neumología. Hospital Clínic. Villarroel, 170. 08036 Barcelona. España
, Beatriz Lara, Sara Vilá, Marc Miravitlles
Servicio de Neumología, Institut Clínic del Tórax, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Red Respira RTIC 03/11 ISCIII, Hospital Clínic, Barcelona, Spain
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Studies undertaken in Spain indicate that 9% of the general population aged between 40 and 70 years is affected by chronic obstructive pulmonary disease (COPD). Although tobacco smoke is the causative factor in more than 90% of cases, it is estimated that only 10% to 20% of smokers develop COPD. This may be explained by the existence of genetic or environmental factors that modulate the toxic effects of tobacco. The best known genetic factor is α1-antitrypsin deficiency, which is associated with an increased risk of developing pulmonary emphysema in smokers. The most recent guidelines from both the World Health Organization and the American Thoracic Society/European Respiratory Society recommend the establishment of screening programs for the detection of α1-antitrypsin deficiency in patients with COPD. This strategy is crucial in Spain, where the disease is under diagnosed, mainly due to a low index of suspicion among doctors.

Key words:
α1-Antitrypsin deficiency
Diagnosis
Prevalence
COPD

Estudios realizados en España señalan que un 9% de la población general de entre 40 y 70 años està afectada de enfermedad pulmonar obstructiva crónica (EPOC). El humo del tabaco es el factor causal en màs del 90% de los casos; sin embargo, se ha estimado que sólo un 10–20% de los fumadores desarrollan EPOC. La causa se puede encontrar en la existencia de factores genéticos o ambientales que modu-lan el efecto tóxico del tabaco. El factor genético màs conocido es el déficit de alfa-1-antitripsina, que comporta un riesgo aumentado de desarrollar enfisema pulmonar en fumadores. Tanto la Organización Mundial de la Salud como la American Thoracic Society/European Respiratory Society en sus recientes normativas recomiendan establecer programas de detección del déficit de alfa-1-antitripsina en pacientes con EPOC. Esta estrategia es crucial en España, donde la enfermedad està infradiagnosticada, sobre todo de-bido a un bajo índice de sospecha entre los médicos.

Palabras clave:
Déficit de alfa-1-antitripsina
Diagnóstico
Prevalencia
EPOC
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This work was funded by Red Respira grant RTIC 03/111SCII.

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