A national program for detection of α1-antitrypsin deficiency in Italy

M. Luisetti, G. Massi, M. Massobrio, P. Guarraci, F. M. Menchicchi, M. Beccaria, B. Balbi

Research output: Contribution to journalArticlepeer-review


α1-antitrypsin (AAT) deficiency is an inherited condition characterized by low serum levels of AAT and an increased risk of developing pulmonary emphysema. The disease occurs mainly in Caucasians, but Southern Europe, including Italy, is considered a low prevalence area. We developed a national program in Italy in order to improve our knowledge of the epidemiology of AAT deficiency and to establish a registry of the AAT-deficient individuals. The program had two phases: the first lasted 36 months, during which blood from coupons mailed by respiratory physicians from throughout the country, was isoelectrofocused by the Central Laboratory in Rome. The second phase started in February 1996, and the Registry was established. Up to August 1998, 151 subjects with AAT deficiency have been identified and 64 have been enrolled in the Registry. We believe that such a program plays a crucial role in identifying AAT deficiency in a country such as Italy, with low prevalence and low awareness of this rare condition.

Original languageEnglish
Pages (from-to)169-172
Number of pages4
JournalRespiratory Medicine
Issue number3
Publication statusPublished - Mar 1999

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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