Curbside Consultation of the Liver: 49 Clinical Questions

Mitchell L. Shiffman, MD

Question 22: What Should I Tell My Patient Who Is A Carrier For Alpha-1-Antitrypsin Deficiency? (continued)

Anastasios A. Mihas, MD, DMSc, FACP, FACG

In 1963, Laurel and Eriksson first reported the presence of α1-antitrypsin (AAT) deficiency in young patients with pulmonary emphysema. In the late 1960s, Sharp and his coworkers described liver cirrhosis in 10 children with AAT deficiency. Today, we know that AAT deficiency is an autosomal recessive lethal hereditary disorder that affects 1 in 2500 individuals worldwide and is associated with a substantial risk for the development of pulmonary emphysema and liver cirrhosis. Unfortunately, AAT deficiency is clinically underdiagnosed, although it is the most common genetic liver disease in…