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Vol. 45. Issue 3.
Pages 133-142 (March 2009)
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Vol. 45. Issue 3.
Pages 133-142 (March 2009)
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Phenotypic Heterogeneity of Chronic Obstructive Pulmonary Disease
La heterogeneidad fenotípica de la EPOC
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Judith Garcia-Aymericha,b,c,d, Àlvar Agustíc,e, Joan A. Barberàf, José Beldag, Eva Farreroh, Antoni Ferreri, Jaume Ferrerj, Juan B. Gáldizk, Joaquim Geal,m,n, Federico P. Gómezf, Eduard Monsóo, Josep Morerap, Josep Rocaf, Jaume Sauledac,e, Josep M. Antóa,b,c,d,
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jmanto@creal.cat

Corresponding author.
, on behalf of the Working Group on the Phenotypic Characerization and Outcome of Chronic Obstructive Pulmonary Disease (PAC-COPD)
a Centro de Investigación en Epidemiología Ambiental (CREAL), Barcelona, Spain
b Institut Municipal d’Investigació Mèdica (IMIM), Barcelona, Spain
c CIBER de Epidemiología y Salud Pública (CIBERESP), Barcelona, Spain
d Universitat Pompeu Fabra, Barcelona, Spain
e Servicio de Neumología, Hospital Universitari Son Dureta, Palma de Mallorca, Islas Baleares, Spain
f Fundación Caubet-Cimera, Bunyola, Islas Baleares, Spain
g Servicio de Neumología, Hospital Clínic-Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
h Hospital General Universitari, Valencia, Spain
i Servicio de Neumología, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
j Servicio de Neumología, Hospital de Sabadell, Corporació Parc Taulí, Institut Universitari Parc Taulí (Universitat Autònoma de Barcelona), Sabadell, Barcelona, Spain
k Servicio de Neumología, Hospital General Universitari Vall d’Hebron, Barcelona, Spain
l Servicio de Neumología, Hospital de Cruces, Barakaldo, Vizcaya, Spain
m Servicio de Neumología, Hospital del Mar-IMIM, Barcelona, Spain
n Departamento de Ciencias Experimentales y de la Salud, Universitat Pompeu Fabra, Barcelona, Spain
o Servicio de Neumología, Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona, Spain
p CIBER de Enfermedades Respiratorias (CibeRes), Spain
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Abstract

A functional definition of chronic obstructive pulmonary disease (COPD) based on airflow limitation has largely dominated the field. However, a view has emerged that COPD involves a complex array of cellular, organic, functional, and clinical events, with a growing interest in disentangling the phenotypic heterogeneity of COPD. The present review is based on the opinion of the authors, who have extensive research experience in several aspects of COPD. The starting assumption of the review is that current knowledge on the pathophysiology and clinical features of COPD allows us to classify phenotypic information in terms of the following dimensions: respiratory symptoms and health status, acute exacerbations, lung function, structural changes, local and systemic inflammation, and systemic effects. Twenty-six phenotypic traits were identified and assigned to one of the 6 dimensions. For each dimension, a summary is provided of the best evidence on the relationships among phenotypic traits, in particular among those corresponding to different dimensions, and on the relationship between these traits and relevant events in the natural history of COPD. The information has been organized graphically into a phenotypic matrix where each cell representing a pair of phenotypic traits is linked to relevant references. The information provided has the potential to increase our understanding of the heterogeneity of COPD phenotypes and help us plan future studies on aspects that are as yet unexplored.

Keywords:
Epidemiology
Phenotype
Chronic obstructive pulmonary disease
Resumen

La definición funcional de la enfermedad pulmonar obstructiva crónica (EPOC), basada en la limitación al flujo aéreo, ha predominado durante largo tiempo en el ámbito de la neumología. Sin embargo, ha surgido una nueva perspectiva que establece que en la EPOC tiene lugar una compleja variedad de manifestaciones celulares, orgánicas, funcionales y clínicas, y se ha incrementado el interés por desentrañar la heterogeneidad fenotípica de dicha enfermedad. La presente revisión se basa en la opinión de unos autores que tienen una amplia experiencia en la investigación de los diversos aspectos de la EPOC. La revisión parte de la base de que el conocimiento actual sobre la fisiopatología y el cuadro clínico de la EPOC permite clasificar la información fenotípica en función de las siguientes dimensiones: síntomas respiratorios y estado de salud, exacerbaciones agudas, función pulmonar, cambios estructurales, inflamación local y sistémica, y efectos sistémicos. Se han identificado 26 rasgos fenotípicos que se han asignado a alguna de las 6 dimensiones. Para cada dimensión se proporciona un resumen de la mejor evidencia sobre la relación existente entre los rasgos fenotípicos –en concreto, entre aquellos que corresponden a diferentes dimensiones– y sobre la relación entre dichos rasgos y las manifestaciones relevantes en la evolución natural de la EPOC. Toda la información se ha organizado gráficamente en una matriz fenotípica donde cada celda que representa un par de rasgos fenotípicos está vinculada a referencias bibliográficas relevantes. La información podría ayudar a comprender mejor la heterogeneidad de los fenotipos de la EPOC y a planificar estudios futuros sobre aspectos que todavía no se han investigado.

Palabras clave:
Epidemiología
Fenotipo
EPOC
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