ANA MARIA ZAHARIE, SABINA ANTONIU, JOANNA CHOROSTOWSKA WYNIMKO, FLORIN DUMITRU MIHALTAN, OANA CLAUDIA DELEANU, BEATRICE MAHLER, LAVINIA DAVIDESCU, OANA CRISTINA ARGHIR, RUXANDRA ULMEANU ROMANIAN PILOT STUDY OF ALPHA-1 ANTITRYPSIN DETECTION-FEASIBILITY AND CHALLENGES Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed genetic disorder that manifests primarily through pulmonary and hepatic impairment. In Romania, a targeted detection program testing for AATD was implemented between October 2012 and October 2016. A cohort study enrolled all patients with indication for AATD screening (lung or liver disease, adults and children, index and non-index cases). Testing methods were mainly represented by isoelectric focusing, genotyping and/or sequencing. 620 patients (21 children) were tested (median age 50.0±16.4 years, 58.1% men), 91.9% of proved normal. A total of 50 patients were identified to be carrying a modified genotype (26 men). Hardy-Weinberg equilibrium was used for assessing the frequency of the genetic abnormalities: 1/1.08 PiMM, 1/32 PiMS, 1/28 PiMZ, 1/48 M-rare allele heterozygote, 1/3906 PiSS, 1/2770 PiZZ, 1/1000 PiSZ and 1/12346 for a Z-rare allele heterozygote. Severe AATD was present with a 1% frequency. Prevalence of abnormal genotypes estimated for each at risk category was greater in neonate hepatitis (100%), bronchitis (20%) and adult liver cirrhosis (33.3%). In conclusion, a targeted AATD detection program with this formula is feasible in Romania and will be continued with the implementation of a national registry.