Familial alpha 1 antitrypsin deficiency cases that are diagnosed in adulthood

Alpha 1 antitrypsin (AAT) deficiency is a hereditary disorder leading to severe lung and liver diseases worldwide. An accumula- tion of insoluble heterodimer AAT molecules in hepatocytes is the main cause of liver disorders. The most commonly detected allele worldwide is the PIMM allele, which fulfills the AAT function. The most common missing variant is PiZZ. Serum AAT level is a benefi- cial but not a reliable determinant for diagnosis. Liver biopsy yields more reliable results. AAT deficiency has no specific treat- ment. The only treatment modality in children with end stage liver disease is the hepatic transplant. We wanted to present in our arti- cle four cases from same family, diagnosed alpha-1 antitrypsindefi- ciency in adulthood. (Acta gastroenterol. belg., 2016, 79, 54-57).