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Int J Chron Obstruct Pulmon Dis. 2016 May 10;11:999-1004. doi: 10.2147/COPD.S108505. eCollection 2016.

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

Author information

1
Department of Pneumology, Vall d';Hebron University Hospital, Barcelona, Spain; Medicine Department, Autonomous University of Barcelona (UAB), Barcelona, Spain.
2
IDIAP Jordi Gol, Universitat de Barcelona, Barcelona, Spain.
3
IDIAP Jordi Gol, Universitat de Barcelona, Barcelona, Spain; Departament Ciències Clíniques, Universitat de Barcelona, Barcelona, Spain; Primary Care Centre Viladecans-2, Viladecans, Spain.
4
Primary Care Centre Via Roma, Barcelona, Spain.
5
Department of Pneumology, Vall d';Hebron University Hospital, Barcelona, Spain; CIBER of Respiratory Diseases (CIBERES), Spain.
6
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.
7
Department of Pneumology, Vall d';Hebron University Hospital, Barcelona, Spain.

Abstract

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.

KEYWORDS:

COPD; alpha-1 antitrypsin deficiency; diagnosis; population based; screening

PMID:
27274221
PMCID:
PMC4869627
DOI:
10.2147/COPD.S108505
[Indexed for MEDLINE]
Free PMC Article

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