Abstract
This is a case report on a 59-year-old male who was discovered to have a homozygous ZZ alpha-1-antitrypsin phenotype, as an incidental finding following a routine serum protein electrophoresis (SPE) investigation in 2013. In 2018 a respiratory clinician sent a repeat sample, questioning if the correct phenotype had been assigned as the level (40%) seemed too high for a homozygous ZZ diagnosis. Homozygous ZZ was again confirmed as the phenotype. In January 2019, the patient had another sample sent to our lab for routine SPE, and the laboratory noticed that the alpha-1-antitrypsin levels were now near normal. The patient had no inflammatory response so this was confounding given his homozygous ZZ diagnosis. Was this a case of a sample mix up? Unlikely, given that the patient, in addition to being a homozygous ZZ alpha-1-antitrypsin variant, also had a monoclonal IgA kappa paraprotein. Examination of the medical record revealed that the patient was undergoing alpha-1-antitrypsin replacement therapy. No mention of this fact was made on the blood request form. This case highlights the importance of supplying clinical information to the laboratory.
Published Version
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