A nationwide programme for detection of a1-antitrypsin deficiency in Italy

M. Luisetti, G. Massi, F. M. Menchicchi, M. Beccaria, M. Massobrio, I. D A Gruppo

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Up to 1993 inherited α1-antitrypsin (AAT) deficiency was thought to be extremely rare in Italy. Thus a nationwide programme was commenced throughout two Scientific Societies (AIPO and SIMeR), called IDA (Identification of AAT Deficiency). During the early exploratory phase (January 1993-January 1996), coupons with a special blotting paper were distributed among respiratory physicians throughout the country to collect capillary blood spots from subjects with α1-globulin band lacking on protein electrophoresis, levels of AAT <150 mg/dl, early onset emphysema or a family history of COPD. Coupons were mailed to the Central Phenotyping Lab in Rome and blood spots submitted to isoelectric focussing. During this phase, 1,022 samples were evaluated, yielding the detection of 79 subjects with severe AAT deficiency (64 PiZ individuals, 8 PiSZ, 5 Pi Null and 2 PiZ Null). Based on this result, a national Registry was established in February 1996. Phenotyping results were referred to the National Co-ordinating Center in Pavia and included in the database. Physicians detecting an individual with severe AAT deficiency were asked to complete a detailed questionnaire. During the first 18 months the Registry received further 568 samples and further 54 individuals with severe AAT deficiency were identified: 44 Pi Z, 6 Pi SZ, 1 Pi Z Null and 3 Pi Null. The Registry has now enrolled 32 individuals with severe AAT deficiency with completed questionnaires. Twenty two were index cases, all former smokers, mean age of 53 years, mean FEV1 53% predicted and mean FEV1/FVC 55% predicted. Ten were non-index cases (7 non smokers), mean age of 58 years, mean FEV1 91% predicted and mean FEV1/FVC 92% predicted. We conclude that the activity of the Gruppo IDA and of the Italian Registry for Severe AAT Deficiency is crucial in expanding the knowledge of the epidemiology of this condition in Italy.

Original languageEnglish
Issue numberSUPPL. 6
Publication statusPublished - Dec 1997

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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