RT Journal Article
SR Electronic
T1 Screening for alpha1-antitrypsin deficiency at a university hospital
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP PA1090
DO 10.1183/13993003.congress-2015.PA1090
VO 46
IS suppl 59
A1 Alejandro Raimondi
A1 María Alejandra Grosso
A1 Maria Graciela Beretta
A1 María de los Angeles Zalazar
A1 Federico Zenón
A1 Carlos Marcelo Luna
YR 2015
UL http://erj.ersjournals.com/content/46/suppl_59/PA1090.abstract
AB Alpha-1 antitrypsin (AAT) deficiency represents an under diagnosed disease in which early detection can allow lifestyle changes to prevent or at least postpone the development of impairment.Aim: Determine the prevalence of severe alpha-1 antitrypsin deficiency in candidate patients at the outpatient clinic of a University Hospital.Methods: Candidate patients, according to the SEPAR (Sociedad Española de Neumología y Cirugía Torácica) Guidelines, evaluated at the outpatient clinic of a University Hospital in Argentina were included. Whole blood was obtained by distal finger puncture and the AAT concentration was determined by nephelometry. If the value was below 1.5 mg/dl (equivalent to 83 mg/dl in serum) the genotype of the sample was done through a RT-PCR looking for the mutations of the Z and S genes.Results: 172 patients were included, 129 had COPD (table 1). AAT concentration was determined in 160 samples (12 were inadequate to analyse). AAT deficiency was ruled out in 143 patients (89%). In the remaining 17 samples (11%) we proceeded with the genotyping. One patient (0.625%) was diagnosed with severe AAT deficiency related to the Pi Z allele. View this table:TABLE 1 Conclusions: The prevalence of severe AAT deficiency in our candidate patients was of 0.625%. Although rare, this condition should be ruled out in some patients. Targeted testing (in selected COPD patients for example) may increase the likelihood of diagnosis.