Serendipitous detection of alpha-1 antitrypsin deficiency. a single institution’s experience over a 32 month period.

α1-Antitrypsin (AAT) deficiency is under-recognised and under-diagnosed and as such several diagnostic strategies have been employed to improve the detection of this condition. Large scale screening programmes such as population-based and new-born screening pose significant operational and financial challenges and have yielded lower detection rates than targeted screening and hence are not deemed cost-effective. Presently, international guidelines recommend screening of AAT deficiency in targeted individuals, including those with chronic obstructive pulmonary disease, unexplained liver disease and panniculitis. In addition, these guidelines also state that a reduced or absent AAT peak on serum protein electrophoresis (SPE) should prompt a serum AAT level measurement.