Diagnosis and management of patients with α1-antitrypsin (A1AT) deficiency

Clin Gastroenterol Hepatol. 2012 Jun;10(6):575-80. doi: 10.1016/j.cgh.2011.12.028. Epub 2011 Dec 23.


Alpha(1)-antitrypsin (A1AT) deficiency is an autosomal codominant disease that can cause chronic liver disease, cirrhosis, and hepatocellular carcinoma in children and adults and increases risk for emphysema in adults. The development of symptomatic disease varies; some patients have life-threatening symptoms in childhood, whereas others remain asymptomatic and healthy into old age. As a result of this variability, patients present across multiple disciplines, including pediatrics, adult medicine, hepatology, genetics, and pulmonology. This can give physicians the mistaken impression that the condition is less common than it actually is and can lead to fragmented care that omits critical interventions commonly performed by other specialists. We sought to present a rational approach for hepatologists to manage adult patients with A1AT deficiency.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Carcinoma, Hepatocellular / diagnosis
  • Carcinoma, Hepatocellular / etiology*
  • Histocytochemistry
  • Humans
  • Immunohistochemistry
  • Liver / pathology
  • Liver Cirrhosis / diagnosis
  • Liver Cirrhosis / etiology*
  • Models, Biological
  • Pulmonary Emphysema / diagnosis
  • Pulmonary Emphysema / etiology
  • alpha 1-Antitrypsin Deficiency / complications
  • alpha 1-Antitrypsin Deficiency / diagnosis*
  • alpha 1-Antitrypsin Deficiency / drug therapy*
  • alpha 1-Antitrypsin Deficiency / pathology