Abstract
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.
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.
- Copyright ©ERS 2015
