Alpha1-antitrypsin Deficiency (AATD) is a rare hereditary disorder with a prevalence of about 1/5000 individuals in Italy. Deficient patients are at a higher risk to develop lung emphysema at an early age and liver cirrhosis. The low prevalence of AATD suggested the establishment of a registry with the aim to learn more details about the natural history and the quality of care of these patients. The Italian Registry of AATD was established in 1993. A total of 312 adult subjects with severe AATD were enrolled, namely 206 PI*ZZ, 48 PI*SZ, 3 PI*SS and 55 patients with, at least, one rare deficient allele (R). The frequency of 17.6% of PI*RR is the highest so far recorded in national registries of AATD. Clinical data have been collected: 253 were index-patients, mainly affected by lung and liver diseases (79% and 10%, respectively), and 55 were enrolled because of kinship with AATD patients. Mean age of enrollment was significantly higher (p=0.03) in index (49.6±14.4 years) than in non-index (43.5±14.5 years). The mean interval between the onset of symptoms and the final diagnosis was 8 years for patients with lung diseases, and 13 years for liver diseases. Among index patients, most of them were former-smokers (63%). From 1999, 100 patients underwent augmentation therapy with purified AAT (Prolastin); they were mainly former-smokers (75%) with panlobular emphysema (34%). Interestingly, 10% of patients receiving augmentation therapy were non-index subjects.The data of the registry allow a detailed characterization of the natural course of the disease and the levels of the patient care, and confirm the usefulness of early detection of AATD.
Ferrarotti et al. (Thu,) studied this question.