Diagnosis of alpha-1 antitrypsin deficiency : a population-based study
Barrecheguren, Miriam (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Monteagudo, Mònica (Institut Universitari d'Investigació en Atenció Primària Jordi Gol)
Simonet, Pere (Institut Universitari d'Investigació en Atenció Primària Jordi Gol)
Llor, Carl (Institut Català de la Salut)
Rodriguez, Esther (Hospital Universitari Vall d'Hebron)
Ferrer Sancho, Jaume 1958- (Centro de Investigación Biomédica en Red de Enfermedades Respiratorias)
Esquinas, Cristina (Hospital Universitari Vall d'Hebron)
Miravitlles, Marc (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Universitat Autònoma de Barcelona

Data:	2016
Resum:	Alpha-1 antitrypsin deficiency (AATD) remains an underdiagnosed condition despite initiatives developed to increase awareness. The objective was to describe the current situation of the diagnosis of AATD in primary care (PC) in Catalonia, Spain. We performed a population-based study with data from the Information System for Development in Research in Primary Care, a population database that contains information of 5. 8 million inhabitants (80% of the population of Catalonia). We collected the number of alpha-1 antitrypsin (AAT) determinations performed in the PC in two periods (2007-2008 and 2010-2011) and described the characteristics of the individuals tested. A total of 12,409 AAT determinations were performed (5,559 in 2007-2008 and 6,850 in 2010-2011), with 10. 7% of them in children. As a possible indication for AAT determination, 28. 9% adults and 29. 4% children had a previous diagnosis of a disease related to AATD; transaminase levels were above normal in 17. 7% of children and 47. 1% of adults. In total, 663 (5. 3%) individuals had intermediate AATD (50-100 mg/dL), 24 (0. 2%) individuals had a severe deficiency (<50 mg/dL), with a prevalence of 0. 19 cases of severe deficiency per 100 determinations. Nine (41%) of the adults with severe deficiency had a previous diagnosis of COPD/emphysema, and four (16. 7%) were diagnosed with COPD within 6 months. The number of AAT determinations in the PC is low in relation to the prevalence of COPD but increased slightly along the study period. The indication to perform the test is not always clear, and patients detected with deficiency are not always referred to a specialist.
Nota:	Altres ajuts: This study was funded by unrestricted grants from Grifols, Fundació Catalana de Pneumologia, and the Spanish Society of Pneumology and Thoracic Surgery.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Alpha-1 antitrypsin deficiency ; Population based ; Diagnosis ; Screening ; COPD
Publicat a:	International journal of COPD, Vol. 11 (may 2016) , p. 999-1004, ISSN 1178-2005

DOI: 10.2147/COPD.S108505
PMID: 27274221

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