Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis

Abstract Introduction and Objective REDAAT, the Spanish Registry of Patients with Alpha-1 Antitrypsin Deficiency, was set up in order to improve knowledge of this disease. This study is an evaluation of the registry and an analysis of its patient population. Methods The registry has a database hoste...

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Bibliographic Details
Published in:Archivos de bronconeumología (English ed.) 2017-01, Vol.53 (1), p.13-18
Main Authors: Lara, Beatriz, Blanco, Ignacio, Martínez, María Teresa, Rodríguez, Esther, Bustamante, Ana, Casas, Francisco, Cadenas, Sergio, Hernández, José M, Lázaro, Lourdes, Torres, María, Curi, Sergio, Esquinas, Cristina, Dasí, Francisco, Escribano, Amparo, Herrero, Inés, Martínez-Delgado, Beatriz, Michel, Francisco Javier, Rodríguez-Frías, Francisco, Miravitlles, Marc
Format: Article
Language:English
Subjects:
Adult
Aged
Alfa-1 antitripsina
alpha 1-Antitrypsin Deficiency - epidemiology
alpha 1-Antitrypsin Deficiency - genetics
alpha 1-Antitrypsin Deficiency - therapy
Alpha-1 antitripsin
Databases, Factual
Enzyme Replacement Therapy
Female
Genotype
Geography, Medical
Humans
Internal Medicine
Male
Middle Aged
Pulmonary/Respiratory
Registries
Registro
Registry
Spain - epidemiology
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Summary:Abstract Introduction and Objective REDAAT, the Spanish Registry of Patients with Alpha-1 Antitrypsin Deficiency, was set up in order to improve knowledge of this disease. This study is an evaluation of the registry and an analysis of its patient population. Methods The registry has a database hosted on the website www.redaat.es . It collects clinical and functional data on patients with PiSZ, ZZ phenotypes and other rare variants. Results Thanks to the collaboration of 124 physicians, the registry currently contains information on 511 individuals from 103 healthcare centers. Of these 511, 348 (74.2%) are Pi*ZZ homozygotes, and 100 (19.5%) are Pi*SZ heterozygotes. More cases are seen in tertiary level hospitals. A total of 81% of the cases have respiratory disease, and a lower proportion of AATD cases were detected by family screening or liver disease. Follow-up data are available for 45% of the cases, and 35% received alpha-1 antitripsin replacement therapy. Conclusions The REDAAT registry is a useful tool for obtaining quality information about this minority disease in routine clinical practice conditions, although it is difficult to obtain follow-up data, and the representativeness of the sample included cannot be determined.
ISSN:1579-2129
1579-2129
DOI:10.1016/j.arbr.2016.11.013