We describe the rare instance of concomitant biliary atresia and alpha-1-antitrypsin deficiency and the first documented successful portoenterostomy in this scenario. The potential for dual pathology must be recognized and underscores that prompt diagnosis of biliary atresia, despite concomitant alpha-1-antitrypsin deficiency, is essential to afford potential longstanding native liver function.

BACKGROUND Alpha-1 antitrypsin is the main inhibitor of neutrophil elastase in the lung. Although it is principally synthesized by hepatocytes, alpha-1 antitrypsin is also secreted by bronchial epithelial cells. Gene mutations can lead to alpha-1 antitrypsin deficiency, with the Z variant being the most clinically relevant due to its propensity to polymerize. The ability of bronchial epithelial...

Hepatobiliary cancers are aggressive tumors that affect the liver and biliary tract responsible for nearly 550,000 deaths per year. The most common malignancy is hepatocellular carcinoma, risk factors include viral hepatitis infection, nonalcoholic steatohepatitis, excessive alcohol use. Other etiologies Wilson’s disease, α1-antitrypsin deficiency, cryptogenic cirrhosis. Clinicians should be aw...

Background Alpha-1 antitrypsin deficiency (AATD) is a hereditary disorder defined by low plasma levels of alpha-1 antitrypsin (AAT). It is linked primarily with the development of lung, liver and skin disease. The most common abnormal variant of AAT is the ‘Z’ variant. It is the AATD type most associated with the development of liver disease. The aim of this project is to determine the prevalen...