Alpha-1 Antitrypsin Deficiency: Symptoms & Signs

Medically Reviewed on 10/30/2020

Alpha-1 antitrypsin deficiency is a genetic disease characterized by a deficit of a protein known as alpha-1 antitrypsin. The condition results in damage to the lungs and liver. It is most common in people of European ancestry.

Signs and symptoms of alpha-1 antitrypsin deficiency can vary in severity among affected people. Symptoms can include a

The lung damage can cause emphysema, a type of chronic obstructive pulmonary disease (COPD). Other symptoms can include inflammation of the liver (hepatitis) that can lead to an enlarged liver (hepatomegaly), jaundice (yellowing of the skin and whites of the eyes), and possible cirrhosis and liver failure.

Cause of alpha-1 antitrypsin deficiency

A mutation in the gene termed SERPNA1 causes the disease.

Other alpha-1 antitrypsin deficiency symptoms and signs

Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.