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

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:

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

Acknowledgments

This study was funded by unrestricted grants from Grifols, Fundació Catalana de Pneumologia, and the Spanish Society of Pneumology and Thoracic Surgery.

Disclosure

Marc Miravitlles has received speaker fees from Almirall, Boehringer Ingelheim, Pfizer, AstraZeneca, Chiesi, Esteve, GlaxoSmithKline, Menarini, Grifols, Nycomed, and Novartis and consulting fees from Almirall, Boehringer Ingelheim, Pfizer, GlaxoSmithKline, GebroPharma, CSL Behring, MediImmune, Novartis, Grifols, and Nycomed. Carl Llor received a grant from the Fundació Jordi Gol I Gurina for research at the University of Cardiff in 2013. He has also received research grants from the European Commission (Sixth and Seventh Programme Frameworks), the Catalan Society of Family Medicine, and Instituto de Salud Carlos III. Pere Simonet has received speaker fees from Chiesi, Gebro Pharma, Menarini, and TEVA. Miriam Barrecheguren has received speaker fees from Menarini, GlaxoSmithKline, and GebroPharma and consulting fees from Novartis. The other authors report no conflicts of interest in this work.