ALPHA-1 ANTITRYPSIN DEFICIENCY

An inherited disease that results in low or no production of an important protein, alpha-1 antitrypsin. The lack of this protein leads to damage of various organs, but mainly to the lung and liver. Symptoms may become apparent at a very early age or in adulthood, manifesting either as shortness of breath or liver related symptoms (jaundice, fatigue, fluid in the abdomen, mental changes, or gastrointestinal bleeding). There are several options for treatment of the lung disease, including replacement of the missing protein. Treatment of the liver disease is a well-timed liver transplant