Alpha1-antytripsin deficiency in portuguese COPD patients

Introduction: Alpha 1 -Antytripsin Deficiency (AATD) is one of the most frequent genetic disorders worldwide, but is frequently underdiagnosed. In Portugal, there is a high prevalence of the S allele and a medium prevalence of the Z allele. Current guidelines for the diagnosis and management of patients with AATD recommend that all patients with COPD should be screened for AATD in order to improve diagnosis. Aims and Objectives: To evaluate the prevalence of AATD among portuguese COPD patients. Methods: All clinically stable COPD patients attending the Respiratory Rehabilitation Outpatient Clinic at Hospital Geral – CHUC were eligible for inclusion. Alpha 1 -Antytripsin (AAT) serum level was measured by nephelometry. All patients with low AAT serum levels ( Results: A total of 132 COPD patients were screened for AATD through measurement of serum AAT concentration. Patients were mostly male (87.9%), with a mean age of 72.2 ± 9.9 years and current or former smokers (22.7% and 50.8% respectively). Mean FEV 1 was 46.8% ± 17.9% (14%-95%). Seven patients (5.3%) had serum levels below 90mg/dL, and 4 patients (3.0%) below 50mg/dL. Phenotyping and genotyping identified 2 PiZZ, 2 PiM Malton Z, 1 SZ and 1 PiMZ patient. One patient died before phenotyping was done. Conclusions: 5.3% of the COPD patients in this study had low serum AAT levels and 3% had severe AATD. These results support the guidelines that recommend that all COPD patients should be screened for AATD.