PMID- 27274221
OWN - NLM
STAT- MEDLINE
DCOM- 20170112
LR  - 20181113
IS  - 1178-2005 (Electronic)
IS  - 1176-9106 (Print)
IS  - 1176-9106 (Linking)
VI  - 11
DP  - 2016
TI  - Diagnosis of alpha-1 antitrypsin deficiency: a population-based study.
PG  - 999-1004
LID - 10.2147/COPD.S108505 [doi]
AB  - INTRODUCTION: 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. 
      CONCLUSION: 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.
FAU - Barrecheguren, Miriam
AU  - Barrecheguren M
AD  - Department of Pneumology, Vall d';Hebron University Hospital, Barcelona, Spain; 
      Medicine Department, Autonomous University of Barcelona (UAB), Barcelona, Spain.
FAU - Monteagudo, Monica
AU  - Monteagudo M
AD  - IDIAP Jordi Gol, Universitat de Barcelona, Barcelona, Spain.
FAU - Simonet, Pere
AU  - Simonet P
AD  - IDIAP Jordi Gol, Universitat de Barcelona, Barcelona, Spain; Departament Ciencies 
      Cliniques, Universitat de Barcelona, Barcelona, Spain; Primary Care Centre 
      Viladecans-2, Viladecans, Spain.
FAU - Llor, Carl
AU  - Llor C
AD  - Primary Care Centre Via Roma, Barcelona, Spain.
FAU - Rodriguez, Esther
AU  - Rodriguez E
AD  - Department of Pneumology, Vall d';Hebron University Hospital, Barcelona, Spain; 
      CIBER of Respiratory Diseases (CIBERES), Spain.
FAU - Ferrer, Jaume
AU  - Ferrer J
AD  - 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.
FAU - Esquinas, Cristina
AU  - Esquinas C
AD  - Department of Pneumology, Vall d';Hebron University Hospital, Barcelona, Spain.
FAU - Miravitlles, Marc
AU  - Miravitlles M
AD  - 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.
LA  - eng
PT  - Journal Article
PT  - Observational Study
PT  - Research Support, Non-U.S. Gov't
DEP - 20160510
PL  - New Zealand
TA  - Int J Chron Obstruct Pulmon Dis
JT  - International journal of chronic obstructive pulmonary disease
JID - 101273481
RN  - alpha-1-Antitrypsin Deficiency, Autosomal Recessive
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Child
MH  - Child, Preschool
MH  - Databases, Factual
MH  - Humans
MH  - Infant
MH  - Middle Aged
MH  - Primary Health Care
MH  - Retrospective Studies
MH  - Spain
MH  - Young Adult
MH  - alpha 1-Antitrypsin Deficiency/*diagnosis/epidemiology
PMC - PMC4869627
OTO - NOTNLM
OT  - COPD
OT  - alpha-1 antitrypsin deficiency
OT  - diagnosis
OT  - population based
OT  - screening
EDAT- 2016/06/09 06:00
MHDA- 2017/01/14 06:00
PMCR- 2016/05/10
CRDT- 2016/06/09 06:00
PHST- 2016/06/09 06:00 [entrez]
PHST- 2016/06/09 06:00 [pubmed]
PHST- 2017/01/14 06:00 [medline]
PHST- 2016/05/10 00:00 [pmc-release]
AID - copd-11-999 [pii]
AID - 10.2147/COPD.S108505 [doi]
PST - epublish
SO  - Int J Chron Obstruct Pulmon Dis. 2016 May 10;11:999-1004. doi: 
      10.2147/COPD.S108505. eCollection 2016.