Diagnosis of alpha-1 antitrypsin deficiency: a population-based study.
BACKGROUND
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Department of Pneumology, Vall d';Hebron University Hospital, Barcelona, Spain; Medicine Department, Autonomous University of Barcelona (UAB), Barcelona, Spain.
Miriam
M
Barrecheguren
IDIAP Jordi Gol, Universitat de Barcelona, Barcelona, Spain.
Mónica
M
Monteagudo
IDIAP Jordi Gol, Universitat de Barcelona, Barcelona, Spain; Departament Ciències Clíniques, Universitat de Barcelona, Barcelona, Spain; Primary Care Centre Viladecans-2, Viladecans, Spain.
Pere
P
Simonet
Primary Care Centre Via Roma, Barcelona, Spain.
Carl
C
Llor
Department of Pneumology, Vall d';Hebron University Hospital, Barcelona, Spain; CIBER of Respiratory Diseases (CIBERES), Spain.
Esther
E
Rodriguez
Department of Pneumology, Vall d';Hebron University Hospital, Barcelona, Spain; Medicine Department, Autonomous University of Barcelona (UAB), Barcelona, Spain; CIBER of Respiratory Diseases (CIBERES), Spain.
Jaume
J
Ferrer
Department of Pneumology, Vall d';Hebron University Hospital, Barcelona, Spain.
Cristina
C
Esquinas
Department of Pneumology, Vall d';Hebron University Hospital, Barcelona, Spain; Medicine Department, Autonomous University of Barcelona (UAB), Barcelona, Spain; CIBER of Respiratory Diseases (CIBERES), Spain.
Marc
M
Miravitlles
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D016208:Databases, Factual; D006801:Humans; D007223:Infant; D008875:Middle Aged; D011320:Primary Health Care; D012189:Retrospective Studies; D013030:Spain; D055815:Young Adult; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis* / Q000453:epidemiology
COPD; alpha-1 antitrypsin deficiency; diagnosis; population based; screening