Routine serum protein electrophoresis and detection of alpha 1 -antitrypsin deficiency

Background: Alpha 1 -antitrypsin (AAT) deficiency (AATD) is a largely underdiagnosed genetic disorder. Reduced serum levels of AAT lead to a higher risk of developing emphysema and chronic liver disease at an early age. Several strategies are currently being proposed to improve detection rates. Aims: Little attention has previously been paid to subjects with a reduced alpha-1 globulin (A1G) electrophoresis band. We therefore investigated the potential of routine serum protein electrophoresis (RSPEP) to improve AATD detection rates based on this marker. Methods: The RSPEP pilot study included 214,894 electrophoresis samples. Nephelometric measurement of AAT was performed and a number of subjects were referred for verification of AATD diagnosis. Data were compared with results from the Italian AATD targeted detection program. Results: In the 16-year period (1996-2012) the program obtained 3595 samples. Patients with severe AATD, who were tested because of a reduced A1G band, comprised 0.75% of the total sample. In the RSPEP pilot study, 601 samples showed A1G to be 0.5 ≤ 1 294 0.1 > 1 ≤ 1.13 61 0.03 ≥ 1.13 225 0.1