Chapter 2 - The Swedish Alpha-1-Antitrypsin Screening Study: What We Have Learnt From Birth to Adult Life

Abstract

During 1972–74, 200,000 Swedish infants were screened for alpha-1-antitrypsin deficiency (AATD). One in 1500 had severe AATD with the proteinase inhibitor (Pi) variant Pi*ZZ. Of the 131 infants with the ZZ type, nine (7%) developed severe neonatal cholestasis. Another 13 (10%) suffered from either solely conjugated hyperbilirubinemia or clinical signs of liver disease without jaundice. All these 22 infants had abnormal serum gamma glutamyl transpeptidase (GGT) concentrations. Half of the healthy ZZ infants had abnormal liver test results. During infancy and childhood 40%–70% of the then healthy infants had increased serum alanine aminotransferase (ALT) concentrations. Two of the nine infants with severe neonatal cholestasis died primarily of liver cirrhosis.