We describe five cases of severe a1-antitrypsin (AAT) deficiency to illustrate the importance of visual inspection of electrophoretic patterns of serum proteins. In four patients the diagnosis of AAT deficiency was clinically unsuspected; in the other patient, the electrophoretic pattern was the first clue to confirm the diagnosis. Densitometric scanning of these patterns invariably overestimat...

Forty-two cases of hepatocellular carcinoma (HCC) were examined for the presence of the inclusions of alpha-1-antitrypsin (AAT), which indicate a carrier state for the Pi Z gene. These were found in the non-neoplastic liver tissue of two cases of HCC and in one of the 98 control livers, a difference that is not statistically significant. Typical globules of AAT deficiency were not found in HCC ...

Respiratory medicine is facing formidable challenges in the 21st century. Indeed, most respiratory medical research is becoming interconnected, translational and transnational, all embedded within so-called “planetary health” [1]. However, renewing estimates and trends from classical, descriptive epidemiology, including how many patients of a given condition are around, and how many are expecte...

Introduction Alpha-1-antitrypsin deficiency (AATD) is one of the most common genetic disorders, with an estimated prevalence of 1:2000 to 1:5000 in Europe and Scandinavia, depending on the geographic location and type of epidemiologic study [9]. The alpha-1-antitrypsin gene, or SERPINA1 gene (serine proteinase inhibitor), is located on chromosome 14. Patients with the homozygous AAT deficiency ...